transcriptional start site / annotation algorithm / variant site / splice site / /
Person
Min Hu / Steven A. McCarroll / David Cooper / Mark B. Gerstein / Adam Frankish / Clara Amid / Gary Ian Saunders / Jennifer Harrow / Mark A. DePristo / James Morris / Joseph K. Pickrell / Jasmine Mu / Catherine Snow / Richard A. Gibbs / Robert E. Handsaker / Alexandra H Bignell / Jeffrey C. Barrett / Jun Wang / Kai Ye / Stephen B. Montgomery / Jonathan K. Pritchard / Toby Hunt / Donald F. Conrad / Lukas Habegger / Irene Gallego Romero / Suzannah Bumpstead / Jeffrey Rosenfeld / Gene Ontology / Luke Jostins / Matthew E. Hurles / Mike Kay / Mike Jin / Qasim Ayub / Denise R. Carvalho-Silva / /
Position
independent candidate / model at this location / forward for further analysis / Genomes Pilot data We / /
A systematic survey of loss-of-function variants in human protein-coding genes Supplementary material Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lu