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