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• W4311473687 abstract "Abstract Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for “novel” STRs, which include new motifs at known loci or STRs absent from the reference genome. We developed STRling to efficiently count k-mers to recover informative reads and call expansions at known and novel STR loci. STRling is sensitive to known STR disease loci, has a low false discovery rate, and resolves novel STR expansions to base-pair position accuracy. It is fast, scalable, open-source, and available at: github.com/quinlan-lab/STRling ." @default.
• W4311473687 created "2022-12-26" @default.
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• W4311473687 date "2022-12-14" @default.
• W4311473687 modified "2023-10-15" @default.
• W4311473687 title "STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci" @default.
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• W4311473687 doi "https://doi.org/10.1186/s13059-022-02826-4" @default.
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