Genome-wide profiling of heritable and de novo STR variations.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 28436466.
- Also identified by DOI 10.1038/nmeth.4267 and PMC identifier 5482724.
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Abstract
Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool.github.io/HipSTR.
Medical subject headings
- Chromosome Mapping
- DNA Fingerprinting
- Genetic Predisposition to Disease
- Genetic Variation
- Genome, Human
- Microsatellite Repeats