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...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Zhuoran, Li, Quan, Marchionni, Luigi, Wang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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

Ejemplares similares