Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

por Christopher DeBoever, Yosuke Tanigawa, Malene E. Lindholm, Greg McInnes, Adam Lavertu, Erik Ingelsson, Chris Chang, Euan A. Ashley, Carlos D. Bustamante, Mark J. Daly, Manuel A. Rivas
Publicado 2018

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

por Yosuke Tanigawa, Jiehan Li, Johanne M. Justesen, Heiko Horn, Matthew Aguirre, Christopher DeBoever, Chris Chang, Balasubramanian Narasimhan, Kasper Lage, Trevor Hastie, Chong Y. Park, Gill Bejerano, Erik Ingelsson, Manuel A. Rivas
Publicado 2019

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

por David Jakubosky, Erin N. Smith, Matteo D’Antonio, Marc Jan Bonder, William W. Young Greenwald, Agnieszka D’Antonio-Chronowska, Hiroko Matsui, i2QTL Consortium, Oliver Stegle, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Publicado 2020

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

por Matteo D′Antonio, Donate Weghorn, Agnieszka D′Antonio-Chronowska, Florence Coulet, Katrina M. Olson, Christopher DeBoever, Frauke Drees, Angelo Arias, Hakan Alakus, Andrea L. Richardson, Richard B. Schwab, Emma K. Farley, Shamil R. Sunyaev, Kelly A Frazer
Publicado 2017

Properties of structural variants and short tandem repeats associated with gene expression and complex traits

por David Jakubosky, Matteo D’Antonio, Marc Jan Bonder, Craig Smail, Margaret K. R. Donovan, William W. Young Greenwald, Hiroko Matsui, i2QTL Consortium, Agnieszka D’Antonio-Chronowska, Oliver Stegle, Erin N. Smith, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Publicado 2020