Christopher E. Gillies

TL;DR: A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.

TL;DR: In this article, a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry is presented.

TL;DR: This paper used exome sequencing to explore protein altering variants and their consequences in 454,787 UK Biobank study participants and identified 12 million coding variants, including ~1 million loss-of-function and ~1.8 million deleterious missense variants.

TL;DR: This study discovered GLOM and TI eQTLs, identified those that were tissue specific, deconvoluted them into cell-specific signals, and used them to characterize known GWAS alleles.

TL;DR: A recurrent 370‐kb deletion at the 22q11.2 locus is identified as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies.