The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and s...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Genome Med
Main Authors: Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Comment
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254704/
https://ncbi.nlm.nih.gov/pubmed/32460895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00748-z
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker