부산대학교 도서관

Rheinbay, Esther; Nielsen, Morten Muhlig; Abascal, Federico; Wala, Jeremiah A.; Shapira, Ofer; Tiao, Grace; Hornshoj, Henrik; Hess, Julian M.; Juul, Randi Istrup; Lin, Ziao; Feuerbach, Lars; Sabarinathan, Radhakrishnan; Madsen, Tobias; Kim, Jaegil; Mularoni, Loris; Shuai, Shimin; Lanzos, Andres; Herrmann, Carl; Maruvka, Yosef E.; Shen, Ciyue; Amin, Samirkumar B.; Bandopadhayay, Pratiti; Bertl, Johanna; Boroevich, Keith A.; Busanovich, John; Carlevaro-Fita, Joana; Chakravarty, Dimple; Chan, Calvin Wing Yiu; Craft, David; Dhingra, Priyanka; Diamanti, Klev, 1987; Fonseca, Nuno A.; Gonzalez-Perez, Abel; Guo, Qianyun; Hamilton, Mark P.; Haradhvala, Nicholas J.; Hong, Chen; Isaev, Keren; Johnson, Todd A.; Juul, Malene; Kahles, Andre; Kahraman, Abdullah; Kim, Youngwook; Komorowski, Jan; Kumar, Kiran; Kumar, Sushant; Lee, Donghoon; Lehmann, Kjong-Van; Li, Yilong; Liu, Eric Minwei; Lochovsky, Lucas; Park, Keunchil; Pich, Oriol; Roberts, Nicola D.; Saksena, Gordon; Schumacher, Steven E.; Sidiropoulos, Nikos; Sieverling, Lina; Sinnott-Armstrong, Nasa; Stewart, Chip; Tamborero, David; Tubio, Jose M. C.; Umer, Husen Muhammad; Uuskula-Reimand, Liis; Wadelius, Claes, 1955; Wadi, Lina; Yao, Xiaotong; Zhang, Cheng-Zhong; Zhang, Jing; Haber, James E.; Hobolth, Asger; Imielinski, Marcin; Kellis, Manolis; Lawrence, Michael S.; von Mering, Christian; Nakagawa, Hidewaki; Raphael, Benjamin J.; Rubin, Mark A.; Sander, Chris; Stein, Lincoln D.; Stuart, Joshua M.; Tsunoda, Tatsuhiko; Wheeler, David A.; Johnson, Rory; Reimand, Juri; Gerstein, Mark; Khurana, Ekta; Campbell, Peter J.; Lopez-Bigas, Nuria; Weischenfeldt, Joachim; Beroukhim, Rameen; Martincorena, Inigo; Pedersen, Jakob Skou; Getz, Gad; Bader, Gary D.; Barenboim, Jonathan; Brunak, Soren; Chen, Ken; Choi, Jung Kyoon; Deu-Pons, Jordi; Fink, J. Lynn; Frigola, Joan; Gambacorti-Passerini, Carlo; Garsed, Dale W.; Gut, Ivo G.; Haan, David; Harmanci, Arif O.; Helmy, Mohamed; Hodzic, Ermin; Izarzugaza, Jose M. G.; Kim, Jong K.; Korbel, Jan O.; Larsson, Erik; Li, Shantao; Li, Xiaotong; Lou, Shaoke; Marchal, Kathleen; Martinez-Fundichely, Alexander; McGillivray, Patrick D.; Meyerson, William; Muinos, Ferran; Paczkowska, Marta; Park, Kiejung; Pons, Tirso; Pulido-Tamayo, Sergio; Reyes-Salazar, Iker; Reyna, Matthew A.; Rubio-Perez, Carlota; Sahinalp, S. Cenk; Salichos, Leonidas; Shackleton, Mark; Shrestha, Raunak; Valencia, Alfonso; Vazquez, Miguel; Verbeke, Lieven P. C.; Wang, Jiayin; Warrell, Jonathan; Waszak, Sebastian M.; Wu, Guanming; Yu, Jun; Zhang, Xuanping; Zhang, Yan; Zhao, Zhongming; Zou, Lihua; Akdemir, Kadir C.; Alvarez, Eva G.; Baez-Ortega, Adrian; Boutros, Paul C.; Bowtell, David D. L.; Brors, Benedikt; Burns, Kathleen H.; Chan, Kin; CortesCiriano, Isidro; Dueso-Barroso, Ana; Dunford, Andrew J.; Edwards, Paul A.; Estivill, Xavier; Etemadmoghadam, Dariush; Frenkel-Morgenstern, Milana; Gordenin, Dmitry A.; Hutter, Barbara; Jones, David T. W.; Ju, Young Seok; Kazanov, Marat D.; Klimczak, Leszek J.; Koh, Youngil; Lee, Eunjung Alice; Lee, Jake June-Koo; Lynch, Andy G.; Macintyre, Geoff; Markowetz, Florian; Meyerson, Matthew; Miyano, Satoru; Navarro, Fabio C. P.; Ossowski, Stephan; Park, Peter J.; Pearson, John, V; Puiggros, Montserrat; Rippe, Karsten; Roberts, Steven A.; RodriguezMartin, Bernardo; Scully, Ralph; Torrents, David; Villasante, Izar; Waddell, Nicola; Yang, Lixing; Yoon, Sung-Soo; Zamora, Jorge

Nature. 578(7793):102-111

Carlevaro-Fita, Joana; Lanzos, Andres; Feuerbach, Lars; Hong, Chen; Mas-Ponte, David; Pedersen, Jakob Skou; Johnson, Rory; Abascal, Federico; Amin, Samirkumar B.; Bader, Gary D.; Barenboim, Jonathan; Beroukhim, Rameen; Bertl, Johanna; Boroevich, Keith A.; Brunak, Soren; Campbell, Peter J.; Chakravarty, Dimple; Chan, Calvin Wing Yiu; Chen, Ken; Choi, Jung Kyoon; Deu-Pons, Jordi; Dhingra, Priyanka; Diamanti, Klev, 1987; Fink, J. Lynn; Fonseca, Nuno A.; Frigola, Joan; Gambacorti-Passerini, Carlo; Garsed, Dale W.; Gerstein, Mark; Getz, Gad; Gonzalez-Perez, Abel; Guo, Qianyun; Gut, Ivo G.; Haan, David; Hamilton, Mark P.; Haradhvala, Nicholas J.; Harmanci, Arif O.; Helmy, Mohamed; Herrmann, Carl; Hess, Julian M.; Hobolth, Asger; Hodzic, Ermin; Hornshoj, Henrik; Isaev, Keren; Izarzugaza, Jose M. G.; Johnson, Todd A.; Juul, Malene; Juul, Randi Istrup; Kahles, Andre; Kahraman, Abdullah; Kellis, Manolis; Khurana, Ekta; Kim, Jaegil; Kim, Jong K.; Kim, Youngwook; Komorowski, Jan; Korbel, Jan O.; Kumar, Sushant; Larsson, Erik; Lawrence, Michael S.; Lee, Donghoon; Lehmann, Kjong-Van; Li, Shantao; Li, Xiaotong; Lin, Ziao; Liu, Eric Minwei; Lochovsky, Lucas; Lou, Shaoke; Madsen, Tobias; Marchal, Kathleen; Martincorena, Inigo; Martinez-Fundichely, Alexander; Maruvka, Yosef E.; McGillivray, Patrick D.; Meyerson, William; Muinos, Ferran; Mularoni, Loris; Nakagawa, Hidewaki; Nielsen, Morten Muhlig; Paczkowska, Marta; Park, Keunchil; Park, Kiejung; Pich, Oriol; Pons, Tirso; Pulido-Tamayo, Sergio; Raphael, Benjamin J.; Reimand, Juri; Reyes-Salazar, Iker; Reyna, Matthew A.; Rheinbay, Esther; Rubin, Mark A.; Rubio-Perez, Carlota; Sabarinathan, Radhakrishnan; Sahinalp, S. Cenk; Saksena, Gordon; Salichos, Leonidas; Sander, Chris; Schumacher, Steven E.; Shackleton, Mark; Shapira, Ofer; Shen, Ciyue; Shrestha, Raunak; Shuai, Shimin; Sidiropoulos, Nikos; Sieverling, Lina; Sinnott-Armstrong, Nasa; Stein, Lincoln D.; Stuart, Joshua M.; Tamborero, David; Tiao, Grace; Tsunoda, Tatsuhiko; Umer, Husen Muhammad; Uuskula-Reimand, Liis; Valencia, Alfonso; Vazquez, Miguel; Verbeke, Lieven P. C.; Wadelius, Claes, 1955; Wadi, Lina; Wang, Jiayin; Warrell, Jonathan; Waszak, Sebastian M.; Weischenfeldt, Joachim; Wheeler, David A.; Wu, Guanming; Yu, Jun; Zhang, Jing; Zhang, Xuanping; Zhang, Yan; Zhao, Zhongming; Zou, Lihua; von Mering, Christian

Communications Biology. 3(1)

Tiao, Justin; Kator, Jamie; Rosenberg, Ashley M.; Wang, Kevin C.; Stern, Brocha Z.; Bienstock, Dennis; Hoang, Tim; Gladstone, James N.; Anthony, Shawn G.

Arthroscopy: The Journal of Arthroscopy & Related Surgery (ARTHROSCOPY), Oct2025; 41(10): 3930-39393. (35464p)

Weisburd B; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA. Electronic address: weisburd@broadinstitute.org.; Sharma R; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA.; Pata V; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ganesh VS; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Brigham & Women's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; O'Heir E; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; O'Leary M; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Pais L; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN.; Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN.; Folland C; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Peric S; University of Belgrade, Faculty of Medicine, Belgrade, Serbia; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia.; Fahmy N; Neuromuscular Center, Ain Shams University, Cairo, Egypt.; Udd B; Tampere Neuromuscular Center and Folkhälsan Research Center, Helsinki, Finland.; Horáková M; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Łusakowska A; Department of Neurology, Neuromuscular Center ERN, Medical University of Warsaw, Warsaw, Poland.; Manoj R; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Nalini A; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Karcagi V; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.; Haliloğlu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Herguner O; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN.; Ravenscroft G; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Laing N; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Scott HS; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Pajusalu S; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Tiao G; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Rehm HL; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: odonnell@broadinstitute.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Kastenberg ZJ; Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Short SS; Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Riehle KJ; Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.; Utria A; Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.; Lautz TB; Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Ott KC; Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Murphy AJ; St Jude Children's Research Hospital, Memphis, Tennessee, USA.; Mansfield S; St Jude Children's Research Hospital, Memphis, Tennessee, USA.; Lal DR; Children's Wisconsin, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Hallis B; Children's Wisconsin, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Murphy JT; Children's Health Specialty Center, University of Texas - Southwestern Medical Center, Dallas, Texas, USA.; Roach JP; Children's Hospital Colorado, University of Colorado School of Medicine, Denver, Colorado, USA.; Polites SF; Mayo Clinic, Rochester, Minnesota, USA.; Beckhorn C; Duke Children's Health Center, Duke University School of Medicine, Durham, North Carolina, USA.; Tracy ET; Duke Children's Health Center, Duke University School of Medicine, Durham, North Carolina, USA.; Fialkowski EA; Doernbecher Children's Hospital, Oregon Health & Sciences University, Portland, Oregon, USA.; Seemann NM; Children's Hospital London Health Sciences Centre, Western University, London, Ontario, Canada.; Bütter AM; Children's Hospital London Health Sciences Centre, Western University, London, Ontario, Canada.; Rich BS; Cohen Children's Medical Center, Donald and Barbara Zucker School of Medicine, New Hyde Park, New York, USA.; Glick RD; Cohen Children's Medical Center, Donald and Barbara Zucker School of Medicine, New Hyde Park, New York, USA.; Bondoc AJ; Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Ofori-Atta BS; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Presson AP; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Chen SY; Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA.; Zamora AK; Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA.; Kim ES; Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA.; Vasudevan S; Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Rinehardt HN; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Malek MM; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Lapidus-Krol E; Department of Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Putra J; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Superina RA; Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Langham MR; St Jude Children's Research Hospital, Memphis, Tennessee, USA.; Meyers RL; Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Tiao G; Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Dasgupta R; Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Baertschiger R; Department of Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

Tiao, G. C.; Tsay, R. S.; Man, K. S.; Chu, Y. J.; Xu, K. K.; Chen, C.; Lin, J. L.; Hsu, C. M.; Lin, C. F.; Mao, C. S.; Ho, C. S.; Liou, R. W.; Yang, Y. F.

Statistica Sinica, 1998 Oct 01. 8(4), 991-1026.

Tiao, G. C.; Tsay, R. S.; Man, K. S.; Chu, Y. J.; Xu, K. K.; Chen, C.; Lin, J. L.; Hsu, C. M.; Lin, C. F.; Mao, C. S.; Ho, C. S.; Liou, R. W.; Yang, Y. F.

Statistica Sinica, 1998 Oct 01. 8(4), 1039-1044.

Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@broadinstitute.org.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Kanai M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Koenig Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Farjoun Y; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada.; Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jeandet T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Bailey, Matthew H.; Meyerson, William U.; Dursi, Lewis Jonathan; Wang, Liang Bo; Dong, Guanlan; Liang, Wen Wei; Weerasinghe, Amila; Li, Shantao; Kelso, Sean; Akbani, Rehan; Anur, Pavana; Buchanan, Alex; Chiotti, Kami; Covington, Kyle; Creason, Allison; Ding, Li; Ellrott, Kyle; Fan, Yu; Foltz, Steven; Getz, Gad; Hale, Walker; Haussler, David; Hess, Julian M.; Hutter, Carolyn M.; Kandoth, Cyriac; Kasaian, Katayoon; Kasapi, Melpomeni; Larson, Dave; Leshchiner, Ignaty; Letaw, John; Ma, Singer; McLellan, Michael D.; Men, Yifei; Mills, Gordon B.; Niu, Beifang; Peto, Myron; Radenbaugh, Amie; Reynolds, Sheila M.; Saksena, Gordon; Sofia, Heidi J.; Stewart, Chip; Struck, Adam J.; Stuart, Joshua M.; Wang, Wenyi; Weinstein, John N.; Wheeler, David A.; Wong, Christopher K.; Xi, Liu; Ye, Kai; Bieg, Matthias; Boutros, Paul C.; Buchhalter, Ivo; Butler, Adam P.; Chen, Ken; Chong, Zechen; Drechsel, Oliver; Jonathan Dursi, Lewis; Eils, Roland; Espiritu, Shadrielle M.G.; Fulton, Robert S.; Gao, Shengjie; Gelpi, Josep L.l.; Gonzalez, Santiago; Gut, Ivo G.; Hach, Faraz; Heinold, Michael C.; Hinton, Jonathan; Hu, Taobo; Huang, Vincent; Huang, Yi; Hutter, Barbara; Jones, David R.; Jung, Jongsun; Jäger, Natalie; Kim, Hyung Lae; Kleinheinz, Kortine; Kumar, Sushant; Kumar, Yogesh; Lalansingh, Christopher M.; Letunic, Ivica; Livitz, Dimitri; Ma, Eric Z.; Maruvka, Yosef E.; Mashl, R. Jay; Menzies, Andrew; Milovanovic, Ana; Nielsen, Morten Muhlig; Ossowski, Stephan; Paramasivam, Nagarajan; Pedersen, Jakob Skou; Perry, Marc D.; Puiggròs, Montserrat; Raine, Keiran M.; Rheinbay, Esther; Royo, Romina; Sahinalp, S. Cenk; Sarrafi, Iman; Schlesner, Matthias; Simpson, Jared T.; Stebbings, Lucy; Stobbe, Miranda D.; Teague, Jon W.; Tiao, Grace; Torrents, David; Wala, Jeremiah A.; Wang, Jiayin; Waszak, Sebastian M.; Vilain, Ricardo E.; Wendl, Michael C.; Werner, Johannes; Wu, Zhenggang; Xue, Hong; Yakneen, Sergei; Yamaguchi, Takafumi N.; Winterhoff, Boris; Yung, Christina K.; Zhang, Junjun; Gerstein, Mark B.; Aaltonen, Lauri A.; Abascal, Federico; Abeshouse, Adam; Aburatani, Hiroyuki; Adams, David J.; Agrawal, Nishant; Ahn, Keun Soo; Ahn, Sung Min; Aikata, Hiroshi; Akdemir, Kadir C.; Al-Ahmadie, Hikmat; Al-Sedairy, Sultan T.; Al-Shahrour, Fatima; Alawi, Malik; Albert, Monique; Aldape, Kenneth; Alexandrov, Ludmil B.; Ally, Adrian; Alsop, Kathryn; Alvarez, Eva G.; Amary, Fernanda; Amin, Samirkumar B.; Aminou, Brice; Ammerpohl, Ole; Anderson, Matthew J.; Ang, Yeng; Antonello, Davide; Aparicio, Samuel; Appelbaum, Elizabeth L.; Arai, Yasuhito; Aretz, Axel; Arihiro, Koji; Ariizumi, Shun ichi; Armenia, Joshua; Arnould, Laurent; Asa, Sylvia; Assenov, Yassen; Atwal, Gurnit; Aukema, Sietse; Auman, J. 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Nature Communications. 11(1)

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Nature Communications. 11

Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@broadinstitute.org.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Kanai M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Koenig Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Farjoun Y; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada.; Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jeandet T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Rheinbay E; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA, USA.; Harvard Medical School, Boston, MA, USA.; Nielsen MM; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Abascal F; Wellcome Trust Sanger Institute, Hinxton, UK.; Wala JA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bioinformatics and Integrative Genomics, Harvard University, Cambridge, MA, USA.; Shapira O; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Tiao G; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hornshøj H; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Hess JM; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Juul RI; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Lin Z; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard University, Cambridge, MA, USA.; Feuerbach L; Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Sabarinathan R; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Madsen T; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Kim J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mularoni L; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Shuai S; Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Lanzós A; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School of Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.; Department of Medical Oncology, Bern University Hospital, University of Bern, Bern, Switzerland.; Herrmann C; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Bioquant Center, Institute of Pharmacy and Molecular Biotechnology, University of Heidelberg, Heidelberg, Germany.; Maruvka YE; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA, USA.; Shen C; Department of Cell Biology, Harvard Medical School, Boston, MA, USA.; cBio Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Amin SB; Department of Genomic Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Graduate Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, USA.; Bandopadhayay P; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Bertl J; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Boroevich KA; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Busanovich J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Carlevaro-Fita J; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School of Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.; Department of Medical Oncology, Bern University Hospital, University of Bern, Bern, Switzerland.; Chakravarty D; Department of Genitourinary Medical Oncology - Research, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Urology, Icahn school of Medicine at Mount Sinai, New York, NY, USA.; Chan CWY; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Faculty of Biosciences, Heidelberg University, Heidelberg, Germany.; Craft D; Department of Radiation Oncology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.; Dhingra P; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.; Diamanti K; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Fonseca NA; European Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.; Gonzalez-Perez A; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Guo Q; Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark.; Hamilton MP; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Haradhvala NJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA, USA.; Hong C; Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Faculty of Biosciences, Heidelberg University, Heidelberg, Germany.; Isaev K; Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.; Johnson TA; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Juul M; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.; Kahles A; Division of Computational Biology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kahraman A; Institute of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.; Kim Y; Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.; Komorowski J; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Institute of Computer Science, Polish Academy of Sciences, Warsaw, Poland.; Kumar K; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Kumar S; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Lee D; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Lehmann KV; Division of Computational Biology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Li Y; SBGD Inc, Cambridge, MA, USA.; Department of Haematology, University of Cambridge, Cambridge, UK.; Liu EM; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.; Lochovsky L; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Park K; Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.; Pich O; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Roberts ND; Department of Haematology, University of Cambridge, Cambridge, UK.; Saksena G; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Schumacher SE; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Sidiropoulos N; Biotech Research & Innovation Centre (BRIC), The Finsen Laboratory, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Sieverling L; Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Faculty of Biosciences, Heidelberg University, Heidelberg, Germany.; Sinnott-Armstrong N; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Stewart C; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tamborero D; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Tubio JMC; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo, Spain.; Umer HM; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Department of Oncology-Pathology, Science for Life Laboratory, Karolinska Institute, Stockholm, Sweden.; Uusküla-Reimand L; Genetics and Genome Biology Program, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Gene Technology, Tallinn University of Technology, Tallinn, Estonia.; Wadelius C; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Wadi L; Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Yao X; New York Genome Center, New York, NY, USA.; Zhang CZ; Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Zhang J; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Haber JE; Department of Biology and Rosenstiel Basic Medical Sciences Research Center, Brandeis University, Waltham, MA, USA.; Hobolth A; Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark.; Imielinski M; New York Genome Center, New York, NY, USA.; Department of Pathology and Laboratory Medicine, and Englander Institute for Precision Medicine, and Institute for Computational Biomedicine, and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.; Kellis M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; MIT Computer Science and Artificial Intelligence Laboratory, Cambridge, MA, USA.; Lawrence MS; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA, USA.; von Mering C; Institute of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.; Nakagawa H; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Raphael BJ; Department of Computer Science, Princeton University, Princeton, NJ, USA.; Rubin MA; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.; Sander C; Department of Cell Biology, Harvard Medical School, Boston, MA, USA.; cBio Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Stein LD; Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Stuart JM; Center for Biomolecular Science and Engineering, University of California at Santa Cruz, Santa Cruz, CA, USA.; Tsunoda T; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.; Laboratory for Medical Science Mathematics, Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.; Wheeler DA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Johnson R; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Department of Medical Oncology, Bern University Hospital, University of Bern, Bern, Switzerland.; Reimand J; Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.; Gerstein M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Department of Computer Science, Yale University, New Haven, CT, USA.; Khurana E; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.; Campbell PJ; Wellcome Trust Sanger Institute, Hinxton, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; López-Bigas N; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.; Weischenfeldt J; Biotech Research & Innovation Centre (BRIC), The Finsen Laboratory, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. joachim.weischenfeldt@bric.ku.dk.; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. joachim.weischenfeldt@bric.ku.dk.; Beroukhim R; The Broad Institute of MIT and Harvard, Cambridge, MA, USA. rameen@broadinstitute.org.; Bioinformatics and Integrative Genomics, Harvard University, Cambridge, MA, USA. rameen@broadinstitute.org.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. rameen@broadinstitute.org.; Martincorena I; Wellcome Trust Sanger Institute, Hinxton, UK. im3@sanger.ac.uk.; Pedersen JS; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark. jakob.skou@clin.au.dk.; Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark. jakob.skou@clin.au.dk.; Getz G; The Broad Institute of MIT and Harvard, Cambridge, MA, USA. gadgetz@broadinstitute.org.; Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA, USA. gadgetz@broadinstitute.org.; Harvard Medical School, Boston, MA, USA. gadgetz@broadinstitute.org.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA. gadgetz@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Sharma R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA, USA.; Pata V; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham & Women's Hospital,Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Folland C; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Perić S; University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia.; Fahmy N; Neuromuscular Center, Ain Shams University, Cairo, Egypt.; Udd B; Tampere Neuromuscular Center and Folkhalsan Research Center, Helsinki, Finland.; Horakova M; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Łusakowska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Manoj R; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Nalini A; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Karcagi V; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Haliloğlu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Herguner O; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Ravenscroft G; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Laing N; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Scott HS; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

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