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• W2609153336 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." @default.
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• W2609153336 date "2017-04-24" @default.
• W2609153336 modified "2023-10-12" @default.
• W2609153336 title "Genome-wide profiling of heritable and de novo STR variations" @default.
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• W2609153336 doi "https://doi.org/10.1038/nmeth.4267" @default.
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