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Updated: Nov 4, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Samplot: a platform for structural variant visual validation and automated filtering
Jonathan R Belyeu1,2, Murad Chowdhury3, Joseph Brown1,2
1Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Abstract:
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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