%0 Journal Article %J Nat Methods %D 2017 %T Genome-wide profiling of heritable and de novo STR variations. %A Willems, Thomas %A Zielinski, Dina %A Yuan, Jie %A Gordon, Assaf %A Gymrek, Melissa %A Erlich, Yaniv %K Algorithms %K Chromosome Mapping %K DNA Fingerprinting %K Genetic Predisposition to Disease %K Genetic Variation %K Genome, Human %K High-Throughput Nucleotide Sequencing %K Humans %K Microsatellite Repeats %K Sequence Alignment %K Sequence Analysis, DNA %K Software %X

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.

%B Nat Methods %V 14 %P 590-592 %8 2017 Jun %G eng %N 6 %1 https://www.ncbi.nlm.nih.gov/pubmed/28436466?dopt=Abstract %R 10.1038/nmeth.4267