STRetch: detecting and discovering pathogenic short tandem repeat expansions.
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ABSTRACT:
SUBMITTER: Dashnow H
PROVIDER: S-EPMC6102892 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Publications
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Dashnow Harriet H Lek Monkol M Phipson Belinda B Halman Andreas A Sadedin Simon S Lonsdale Andrew A Davis Mark M Lamont Phillipa P Clayton Joshua S JS Laing Nigel G NG MacArthur Daniel G DG Oshlack Alicia A
Genome biology 20180821 1
Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pathogenic expansions. Here we present STRetch, a new genome-wide method to scan for STR expansions at all loci across the human genome. We demonstrate the use of STRetch for detecting STR expansions using short-read whole-genome sequencing dat ...[more]
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