STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Genome Biol
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Abstract | 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 data at known pathogenic loci as well as novel STR loci. STRetch is open source software, available from github.com/Oshlack/STRetch . |
Year of Publication | 2018
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Journal | Genome Biol
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Volume | 19
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Issue | 1
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Pages | 121
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Date Published | 2018 08 21
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ISSN | 1474-760X
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DOI | 10.1186/s13059-018-1505-2
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PubMed ID | 30129428
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PubMed Central ID | PMC6102892
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Grant list | UM1 HG008900 / HG / NHGRI NIH HHS / United States
GNT1126157 / National Health and Medical Research Council / International
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