Stephen B. Montgomery

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.

Transcriptome and genome sequencing uncovers functional variation in humans

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

Population genomics of human gene expression

Mapping cis- and trans-regulatory effects across multiple tissues in twins

Identification of <i>cis</i>- and <i>trans</i>-regulatory variation modulating microRNA expression levels in human fibroblasts

MicroRNAs (miRNAs) are regulatory noncoding RNAs that affect the production of a significant fraction of human mRNAs via post-transcriptional regulation. Interindividual variati...

Genetic effects on gene expression across human tissues

Integrating common and rare genetic variation in diverse human populations

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide ...