Article
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Genome biology - 21 Aug 2018
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
Abstract excerpt
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...
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