The functional and phenotypic effects of protein coding genetic variation

$4.24M USD

Funder	NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
Recipient Organization	Harvard Medical School
Country	United States
Start Date	Jul 01, 2024
End Date	May 31, 2029
Duration	1,795 days
Number of Grantees	1
Roles	Principal Investigator
Data Source	NIH (US)
Grant ID	`10939604`

Grant Description

PROJECT SUMMARY/ABSTRACT My lab develops statistical methods to characterize genetic architecture and to translate genetic data into biological insights. We are broadly interested in rare variant genetic architecture and its relationship with that of common variants. A particular area of focus is on rare protein coding variation and its functional consequences.

Among all known rare-variant associated genes, the majority are driven by protein truncating variants (PTVs). PTVs are consistently deleterious, which is a benefit for association testing, but they make up