Article

Interpreting short tandem repeat variations in humans using mutational constraint

2016-12-09

Abstract excerpt

Identifying regions of the genome that are depleted of mutations can reveal potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans and are implicated in a variety of human disorders. However, because of the challenges STRs pose to bioinformatics tools, per-locus studies of STR mutations have been limited to hi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 25a307ab-54c4-5c94-b8b8-0fa92a2d0aa5
DOI: 10.1101/092734

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interpreting short tandem repeat variations in humans using mutational constraintDOI 10.1101/092734Read

Interpreting short tandem repeat variations in humans using mutational constraint.Semantic proximity Read

The Landscape of Human STR VariationSemantic proximity Read

The landscape of human STR variation.Semantic proximity Read

The mutational dynamics of short tandem repeats in large, multigenerational families.Semantic proximity Read

The Mutational Dynamics of Short Tandem Repeats in Large, Multigenerational FamiliesSemantic proximity Read

Genome-wide selection inference at short tandem repeatsSemantic proximity Read

WebSTR: A Population-wide Database of Short Tandem Repeat Variation in Humans.Semantic proximity Read

STRetch: detecting and discovering pathogenic short tandem repeat expansionsSemantic proximity Read

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.Semantic proximity Read

Sequencing and characterizing short tandem repeats in the human genome.Semantic proximity Read

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates.Semantic proximity Read

Population-Scale Sequencing Data Enables Precise Estimates of Y-STR Mutation RatesSemantic proximity Read