학술논문
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Document Type
Article
Author
Baxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Adams, Marcia; Aguet, François; Akay, Gulsen; Anderson, Peter; Antonescu, Corina; Arachchi, Harindra M.; Atik, Mehmed M.; Austin-Tse, Christina A.; Babb, Larry; Bacus, Tamara J.; Bahrambeigi, Vahid; Balasubramanian, Suganthi; Bayram, Yavuz; Beaudet, Arthur L.; Beck, Christine R.; Belmont, John W.; Below, Jennifer E.; Bilguvar, Kaya; Boehm, Corinne D.; Boerwinkle, Eric; Boone, Philip M.; Bowne, Sara J.; Brand, Harrison; Buckingham, Kati J.; Byrne, Alicia B.; Calame, Daniel; Campbell, Ian M.; Cao, Xiaolong; Carvalho, Claudia; Chander, Varuna; Chang, Jaime; Chao, Katherine R.; Chinn, Ivan K.; Clarke, Declan; Collins, Ryan L.; Cummings, Beryl; Dardas, Zain; Dawood, Moez; Delano, Kayla; DiTroia, Stephanie P.; Doddapaneni, Harshavardhan; Du, Haowei; Du, Renqian; Duan, Ruizhi; Eldomery, Mohammad; Eng, Christine M.; England, Eleina; Evangelista, Emily; Everett, Selin; Fatih, Jawid; Felsenfeld, Adam; Francioli, Laurent C.; Frazar, Christian D.; Fu, Jack; Gamarra, Emmanuel; Gambin, Tomasz; Gan, Weiniu; Gandhi, Mira; Ganesh, Vijay S.; Garimella, Kiran V.; Gauthier, Laura D.; Giroux, Danielle; Gonzaga-Jauregui, Claudia; Goodrich, Julia K.; Gordon, William W.; Griffith, Sean; Grochowski, Christopher M.; Gu, Shen; Gudmundsson, Sanna; Hall, Stacey J.; Hansen, Adam; Harel, Tamar; Harmanci, Arif O.; Herman, Isabella; Hetrick, Kurt; Hijazi, Hadia; Horike-Pyne, Martha; Hsu, Elvin; Hu, Jianhong; Huang, Yongqing; Hurless, Jameson R.; Jahl, Steve; Jarvik, Gail P.; Jiang, Yunyun; Johanson, Eric; Jolly, Angad; Karaca, Ender; Khayat, Michael; Knight, James; Kolar, J. Thomas; Kumar, Sushant; Lalani, Seema; Laricchia, Kristen M.; Larkin, Kathryn E.; Leal, Suzanne M.; Lemire, Gabrielle; Lewis, Richard A.; Li, He; Ling, Hua; Lipson, Rachel B.; Liu, Pengfei; Lovgren, Alysia Kern; López-Giráldez, Francesc; MacMillan, Melissa P.; Mangilog, Brian E.; Mano, Stacy; Marafi, Dana; Marosy, Beth; Marshall, Jamie L.; Martin, Renan; Marvin, Colby T.; Mawhinney, Michelle; McGee, Sean; McGoldrick, Daniel J.; Mehaffey, Michelle; Mekonnen, Betselote; Meng, Xiaolu; Mitani, Tadahiro; Miyake, Christina Y.; Mohr, David; Morris, Shaine; Mullen, Thomas E.; Murdock, David R.; Murugan, Mullai; Muzny, Donna M.; Myers, Ben; Neira, Juanita; Nguyen, Kevin K.; Nielsen, Patrick M.; Nudelman, Natalie; O’Heir, Emily; O’Leary, Melanie C.; Ongaco, Chrissie; Orange, Jordan; Osei-Owusu, Ikeoluwa A.; Paine, Ingrid S.; Pais, Lynn S.; Paschall, Justin; Patterson, Karynne; Pehlivan, Davut; Pelle, Benjamin; Penney, Samantha; Perez de Acha Chavez, Jorge; Pierce-Hoffman, Emma; Poli, Cecilia M.; Punetha, Jaya; Radhakrishnan, Aparna; Richardson, Matthew A.; Rodrigues, Eliete; Roote, Gwendolin T.; Rosenfeld, Jill A.; Ryke, Erica L.; Sabo, Aniko; Sanchez, Alice; Schrauwen, Isabelle; Scott, Daryl A.; Sedlazeck, Fritz; Serrano, Jillian; Shaw, Chad A.; Shelford, Tameka; Shively, Kathryn M.; Singer-Berk, Moriel; Smith, Joshua D.; Snow, Hana; Snyder, Grace; Solomonson, Matthew; Son, Rachel G.; Song, Xiaofei; Stankiewicz, Pawel; Stephan, Taylorlyn; Sutton, V. Reid; Sveden, Abigail; Sánchez, Diana Cornejo; Tackett, Monica; Talkowski, Michael; Threlkeld, Machiko S.; Tiao, Grace; Udler, Miriam S.; Vail, Laura; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Wang, Gao; Wang, Lu; Wangler, Michael F.; Watts, Nicholas A.; Weisburd, Ben; Weiss, Jeffrey M.; Wheeler, Marsha M.; White, Janson J.; Williamson, Clara E.; Wilson, Michael W.; Wiszniewski, Wojciech; Withers, Marjorie A.; Witmer, Dane; Witzgall, Lauren; Wohler, Elizabeth; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Wu, Nan; Xing, Jinchuan; Yang, Yaping; Yi, Qian; Yuan, Bo; Zeiger, Jordan E.; Zhang, Chaofan; Zhang, Peng; Zhang, Yan; Zhang, Xiaohong; Zhang, Yeting; Zhang, Shifa; Zoghbi, Huda; van den Veyver, Igna; Rehm, Heidi L.; O’Donnell-Luria, Anne
Source
Genetics in Medicine; 20220101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.