Samplot: a platform for structural variant visual validation and automated filtering
Samplot: a platform for structural variant visual validation and automated filtering
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Visual validation is an important step to minimize false-positive predictions from structural variant (SV) detection. We present Samplot, a tool for creating images that display the read depth and sequence alignments necessary to adjudicate purported SVs across samples and sequencing technologies. These images can be rapidly reviewed to curate large SV call sets. Samplot is applicable to many biological problems such as SV prioritization in disease studies, analysis of inherited variation, or de novo SV review. Samplot includes a machine learning package that dramatically decreases the number of false positives without human review. Samplot is available at
https://github.com/ryanlayer/samplot
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Full title
Samplot: a platform for structural variant visual validation and automated filtering
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TN_cdi_doaj_primary_oai_doaj_org_article_3469a82678f7486a86d417d184bb1a2f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3469a82678f7486a86d417d184bb1a2f
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ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-021-02380-5
