Article

Towards a better understanding of the low recall of insertion variants with short-read based variant callers

2020-06-11

Abstract excerpt

Since 2009, numerous tools have been developed to detect structural variants (SVs) using short read technologies. Insertions >50 bp are one of the hardest type to discover and are drastically underrepresented in gold standard variant callsets. The advent of long read technologies has completely changed the situation. In 2019, two independent cross technologies studies have published the most complete variant calls...

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Literature Corpus work: cfbf516e-be05-524e-a857-8af3859721e9
DOI: 10.1101/2020.06.09.142232

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