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Article

NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.

Bioinformatics (Oxford, England) - 4 Mar 2024

Linderman Michael D, Wallace Jacob, van der Heyde Alderik, Wieman Eliza, Brey Daniel, Shi Yiran, Hansen Peter, Shamsi Zahra, Liu Jeremiah, Gelb Bruce D, Bashir Ali

Abstract excerpt

MOTIVATION: Structural variants (SVs) play a causal role in numerous diseases but can be difficult to detect and accurately genotype (determine zygosity) with short-read genome sequencing data (SRS). Improving SV genotyping accuracy in SRS data, particularly for the many SVs first detected with long-read sequencing, will improve our understanding of genetic variation. RESULTS: NPSV-deep is a deep learning-based...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38444093
DOI: 10.1093/bioinformatics/btae129
PMCID: PMC10955255

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