3 years ago

DangerTrack: A scoring system to detect difficult-to-assess regions [version 1; referees: 2 approved, 1 approved with reservations]

Ben Busby, Igor Dolgalev, Fritz Sedlazeck
Over recent years, multiple groups have shown that a large number of structural variants, repeats, or problems with the underlying genome assembly have dramatic effects on the mapping, calling, and overall reliability of single nucleotide polymorphism calls. This project endeavored to develop an easy-to-use track for looking at structural variant and repeat regions. This track, DangerTrack, can be displayed alongside the existing Genome Reference Consortium assembly tracks to warn clinicians and biologists when variants of interest may be incorrectly called, of dubious quality, or on an insertion or copy number expansion. While mapping and variant calling can be automated, it is our opinion that when these regions are of interest to a particular clinical or research group, they warrant a careful examination, potentially involving localized reassembly. DangerTrack is available at https://github.com/DCGenomics/DangerTrack.

Publisher URL: https://f1000research.com/articles/6-443/v1

DOI: 10.12688/f1000research.11254.1

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