Article

Detection of long repeat expansions from PCR-free whole-genome sequence data

2016-12-19

Abstract excerpt

Identifying large repeat expansions such as those that cause amyotrophic lateral sclerosis (ALS) and Fragile X syndrome is challenging for short-read (100-150 bp) whole genome sequencing (WGS) data. A solution to this problem is an important step towards integrating WGS into precision medicine. We have developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats a...

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Literature Corpus work: 8c77e38b-fb47-5558-b3f7-998b9fbf4a9c
DOI: 10.1101/093831

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