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

TitleGenome-wide profiling of heritable and de novo STR variations.
Publication TypeJournal Article
Year of Publication2017
AuthorsWillems, T, Zielinski, D, Yuan, J, Gordon, A, Gymrek, M, Erlich, iv, Y
JournalNat Methods
Date Published2017 Jun
KeywordsAlgorithms, Chromosome Mapping, DNA Fingerprinting, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Microsatellite Repeats, Sequence Alignment, Sequence Analysis, DNA, Software

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

Alternate JournalNat Methods
PubMed ID28436466
PubMed Central IDPMC5482724
Grant ListUM1 HG008901 / HG / NHGRI NIH HHS / United States