A carregar...

A scoping review and proposed workflow for multi-omic rare disease research

BACKGROUND: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approxi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7189570/
https://ncbi.nlm.nih.gov/pubmed/32345347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01376-x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!