Next-generation sequencing and the evolution of data sharing.
GeneMatcher
VariantMatcher
data sharing
model organisms
whole exome sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
26
03
2021
received:
16
02
2021
accepted:
10
04
2021
pubmed:
8
5
2021
medline:
21
1
2022
entrez:
7
5
2021
Statut:
ppublish
Résumé
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene-based matches to variant-level information with increasing use of phenotypic information. We expect that these initiatives will continue to expand in the future affording clinicians, researchers, and most importantly, patients and their families faster and more comprehensive answers.
Identifiants
pubmed: 33960641
doi: 10.1002/ajmg.a.62239
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2633-2635Informations de copyright
© 2021 Wiley Periodicals LLC.
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