A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.
Plos Genetics
Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR
PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS.
Bioinformatics (Oxford, England)
Chen, Feng F; Wang, Shuang S; Jiang, Xiaoqian X; Ding, Sijie S; Lu, Yao Y; Kim, Jihoon J; Sahinalp, S Cenk SC; Shimizu, Chisato C; Burns, Jane C JC; Wright, Victoria J VJ; Png, Eileen E; Hibberd, Martin L ML; Lloyd, David D DD; Yang, Hai H; Telenti, Amalio A; Bloss, Cinnamon S CS; Fox, Dov D; Lauter, Kristin K; Ohno-Machado, Lucila L
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
Molecular Vision
Dimasi, David P DP; Burdon, Kathryn P KP; Hewitt, Alex W AW; Savarirayan, Ravi R; Healey, Paul R PR; Mitchell, Paul P; Mackey, David A DA; Craig, Jamie E JE