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Article

PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.

Nature communications - 28 Nov 2023

Xu Zhuoran, Li Quan, Marchionni Luigi, Wang Kai

Abstract excerpt

Structural variants (SVs) represent a major source of genetic variation associated with phenotypic diversity and disease susceptibility. While long-read sequencing can discover over 20,000 SVs per human genome, interpreting their functional consequences remains challenging. Existing methods for identifying disease-related SVs focus on deletion/duplication only and cannot prioritize individual genes affected by...

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PMID: 38016949
DOI: 10.1038/s41467-023-43651-y
PMCID: PMC10684511

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