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PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants
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 iden...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684511/ https://www.ncbi.nlm.nih.gov/pubmed/38016949 http://dx.doi.org/10.1038/s41467-023-43651-y |