학술논문
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Document Type
article
Author
Julia K. Goodrich; Moriel Singer-Berk; Rachel Son; Abigail Sveden; Jordan Wood; Eleina England; Joanne B. Cole; Ben Weisburd; Nick Watts; Lizz Caulkins; Peter Dornbos; Ryan Koesterer; Zachary Zappala; Haichen Zhang; Kristin A. Maloney; Andy Dahl; Carlos A. Aguilar-Salinas; Gil Atzmon; Francisco Barajas-Olmos; Nir Barzilai; John Blangero; Eric Boerwinkle; Lori L. Bonnycastle; Erwin Bottinger; Donald W. Bowden; Federico Centeno-Cruz; John C. Chambers; Nathalie Chami; Edmund Chan; Juliana Chan; Ching-Yu Cheng; Yoon Shin Cho; Cecilia Contreras-Cubas; Emilio Córdova; Adolfo Correa; Ralph A. DeFronzo; Ravindranath Duggirala; Josée Dupuis; Ma Eugenia Garay-Sevilla; Humberto García-Ortiz; Christian Gieger; Benjamin Glaser; Clicerio González-Villalpando; Ma Elena Gonzalez; Niels Grarup; Leif Groop; Myron Gross; Christopher Haiman; Sohee Han; Craig L. Hanis; Torben Hansen; Nancy L. Heard-Costa; Brian E. Henderson; Juan Manuel Malacara Hernandez; Mi Yeong Hwang; Sergio Islas-Andrade; Marit E. Jørgensen; Hyun Min Kang; Bong-Jo Kim; Young Jin Kim; Heikki A. Koistinen; Jaspal Singh Kooner; Johanna Kuusisto; Soo-Heon Kwak; Markku Laakso; Leslie Lange; Jong-Young Lee; Juyoung Lee; Donna M. Lehman; Allan Linneberg; Jianjun Liu; Ruth J. F. Loos; Valeriya Lyssenko; Ronald C. W. Ma; Angélica Martínez-Hernández; James B. Meigs; Thomas Meitinger; Elvia Mendoza-Caamal; Karen L. Mohlke; Andrew D. Morris; Alanna C. Morrison; Maggie C. Y. Ng; Peter M. Nilsson; Christopher J. O’Donnell; Lorena Orozco; Colin N. A. Palmer; Kyong Soo Park; Wendy S. Post; Oluf Pedersen; Michael Preuss; Bruce M. Psaty; Alexander P. Reiner; Cristina Revilla-Monsalve; Stephen S. Rich; Jerome I. Rotter; Danish Saleheen; Claudia Schurmann; Xueling Sim; Rob Sladek; Kerrin S. Small; Wing Yee So; Timothy D. Spector; Konstantin Strauch; Tim M. Strom; E. Shyong Tai; Claudia H. T. Tam; Yik Ying Teo; Farook Thameem; Brian Tomlinson; Russell P. Tracy; Tiinamaija Tuomi; Jaakko Tuomilehto; Teresa Tusié-Luna; Rob M. van Dam; Ramachandran S. Vasan; James G. Wilson; Daniel R. Witte; Tien-Yin Wong; AMP-T2D-GENES Consortia; Noël P. Burtt; Noah Zaitlen; Mark I. McCarthy; Michael Boehnke; Toni I. Pollin; Jason Flannick; Josep M. Mercader; Anne O’Donnell-Luria; Samantha Baxter; Jose C. Florez; Daniel G. MacArthur; Miriam S. Udler
Source
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants.