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