STRetch: detecting and discovering pathogenic short tandem repeat expansions

STRetch: detecting and discovering pathogenic short tandem repeat expansions

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 STRet...

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Main Authors: Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia
Format: Text
Language:English
Published: BioMed Central 2018
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Method
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6102892/
https://pubmed.ncbi.nlm.nih.gov/30129428
http://dx.doi.org/10.1186/s13059-018-1505-2
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6102892/
https://pubmed.ncbi.nlm.nih.gov/30129428
http://dx.doi.org/10.1186/s13059-018-1505-2

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