The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Clinical whole-genome sequencing
Diagnostics
Rare genetic disease
Standards
Journal
Genome medicine
ISSN: 1756-994X
Titre abrégé: Genome Med
Pays: England
ID NLM: 101475844
Informations de publication
Date de publication:
27 05 2020
27 05 2020
Historique:
received:
17
03
2020
accepted:
11
05
2020
entrez:
29
5
2020
pubmed:
29
5
2020
medline:
14
5
2021
Statut:
epublish
Résumé
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 support the development of standards for the use of clinical WGS.
Identifiants
pubmed: 32460895
doi: 10.1186/s13073-020-00748-z
pii: 10.1186/s13073-020-00748-z
pmc: PMC7254704
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
48Références
J Med Genet. 2019 Dec;56(12):783-791
pubmed: 31023718
Am J Med Genet A. 2019 Jun;179(6):885-892
pubmed: 30883013
Genet Med. 2020 Feb;22(2):283-291
pubmed: 31501586
J Mol Diagn. 2018 Jan;20(1):4-27
pubmed: 29154853
NPJ Genom Med. 2019 Feb 14;4:5
pubmed: 30792901
Genet Med. 2013 Sep;15(9):733-47
pubmed: 23887774
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
NPJ Genom Med. 2018 Feb 9;3:6
pubmed: 29449963