3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints

MOTIVATION: Improvements in next-generation sequencing have enabled genome-based diagnosis for patients with genetic diseases. However, accurate interpretation of human variants requires knowledge from a number of clinical cases. In addition, manual analysis of each variant detected in a patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Won, Dhong-Gun, Kim, Dong-Wook, Woo, Junwoo, Lee, Kyoungyeul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665754/
https://www.ncbi.nlm.nih.gov/pubmed/34270679
http://dx.doi.org/10.1093/bioinformatics/btab529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665754/
https://www.ncbi.nlm.nih.gov/pubmed/34270679
http://dx.doi.org/10.1093/bioinformatics/btab529

Ejemplares similares