Article

Genome-wide profiling of heritable and <i>de novo</i> STR variations

2016-09-27

Abstract excerpt

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping, haplotyping, and phasing STRs from whole genome sequencing data and report a g...

Topics

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

Identifiers and source

Literature Corpus work: d0982282-bfed-56f2-952c-3c681cd0e036
DOI: 10.1101/077727

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genome-wide profiling of heritable and <i>de novo</i> STR variationsDOI 10.1101/077727Read

Genome-wide profiling of heritable and de novo STR variations.Semantic proximity Read

The landscape of human STR variation.Semantic proximity Read

The Landscape of Human STR VariationSemantic proximity Read

Open-Access Worldwide Population STR Database Constructed Using High-Coverage Massively Parallel Sequencing Data Obtained from the 1000 Genomes Project.Semantic 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

popSTR: population-scale detection of STR variants.Semantic proximity Read

DNA variations in human and medical genetics: 25 years of my experience.Semantic proximity Read

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

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

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

Characterization of genome-wide STR variation in 6487 human genomes.Semantic proximity Read