AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature

PURPOSE: Both monogenic pathogenic variant cataloging, and clinical patient diagnosis start with variant-level evidence retrieval followed by expert evidence integration in search of diagnostic variants and genes. Here, we try to accelerate pathogenic variant evidence retrieval by an automatic appro...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Birgmeier, Johannes, Deisseroth, Cole A., Hayward, Laura E., Galhardo, Luisa M. T., Tierno, Andrew P., Jagadeesh, Karthik A., Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A., Haeussler, Maximilian, Bejerano, Gill
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7301356/
https://ncbi.nlm.nih.gov/pubmed/31467448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0643-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados