Genome-wide profiling of heritable and de novo STR variations.
Nat Methods
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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 . |
| Year of Publication | 2017
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| Journal | Nat Methods
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| Volume | 14
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| Issue | 6
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| Pages | 590-592
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| Date Published | 2017 Jun
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| ISSN | 1548-7105
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| DOI | 10.1038/nmeth.4267
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| PubMed ID | 28436466
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| PubMed Central ID | PMC5482724
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| Grant list | UM1 HG008901 / HG / NHGRI NIH HHS / United States
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