Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Son, Jung Hoon, Xie, Gangcai, Yuan, Chi, Ena, Lyudmila, Li, Ziran, Goldstein, Andrew, Huang, Lulin, Wang, Liwei, Shen, Feichen, Liu, Hongfang, Mehl, Karla, Groopman, Emily E., Marasa, Maddalena, Kiryluk, Krzysztof, Gharavi, Ali G., Chung, Wendy K., Hripcsak, George, Friedman, Carol, Weng, Chunhua, Wang, Kai
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6035281/
https://ncbi.nlm.nih.gov/pubmed/29961570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.05.010
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados