Genome-wide profiling of heritable and de novo STR variations

@inproceedings{Willems2017GenomewidePO,
  title={Genome-wide profiling of heritable and de novo STR
variations},
  author={Thomas F. Willems and Dina Zielinski and Jie Yuan and Assaf Gordon and Melissa Gymrek and Yaniv Erlich},
  booktitle={Nature Methods},
  year={2017}
}
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… CONTINUE READING
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