Article

STRetch: detecting and discovering pathogenic short tandem repeat expansions

2017-07-04

Abstract excerpt

Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Historically, pathogenic STR expansions could only be detected by single locus techniques, such as PCR and electrophoresis. The ability to use short read sequencing data to screen for STR expansions has the potential to reduce both the time and cost to reaching diagnosis and enable the discovery of...

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Literature Corpus work: ad77e8d9-9ffa-561e-91f3-e7851661c945
DOI: 10.1101/159228

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