Article

DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning

2021-01-28

Abstract excerpt

<h4>Motivation</h4> Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions in different ways from single nucleotide variants. Interpreting the phenotypic consequences of structural variants relies on information about gene functions, haploinsu...

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Literature Corpus work: 586d5cdf-0715-54bc-b73f-a32559650dca
DOI: 10.1101/2021.01.28.428557

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