Identifying regions of the genome that are depleted of mutations can distinguish potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans; however, per-locus studies of STR mutations have been limited to highly ascertained panels of several dozen loci. The current study applied its method to obtain robust estimates of the impact of local sequence features on mutation parameters and used these estimates to create a framework for measuring constraint at STRs by comparing observed versus expected mutation rates. Constraint scores identified known pathogenic variants with early-onset effects. This metric will provide a valuable tool for prioritizing pathogenic STRs in medical genetics studies. (publisher abstract modified)
Downloads
Similar Publications
- Current State of Knowledge on Implications of Gut Microbiome for Surgical Conditions
- Audit of the Office of Justice Programs Victim Assistance Grants Awarded to the West Virginia Department of Homeland Security, Division of Administrative Services, Justice and Community Services, Charleston, West Virginia
- Audit of the Office of Justice Programs' Civil Rights Complaint Process