Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Data Connect
Franklin
Geno2MP
Matching Tools
MyGene2
VariantMatcher
variant-level
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
15
02
2022
received:
07
11
2021
accepted:
18
02
2022
pubmed:
23
2
2022
medline:
25
5
2022
entrez:
22
2
2022
Statut:
ppublish
Résumé
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
Identifiants
pubmed: 35191117
doi: 10.1002/humu.24359
pmc: PMC9133151
mid: NIHMS1791805
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
782-790Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Informations de copyright
© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.
Références
Am J Hum Genet. 2009 Apr;84(4):524-33
pubmed: 19344873
Genet Med. 2016 Aug;18(8):788-95
pubmed: 26656649
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:305-326
pubmed: 32339034
JAMA. 2014 Nov 12;312(18):1870-9
pubmed: 25326635
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
N Engl J Med. 2019 Jun 20;380(25):2478-2480
pubmed: 31216405
Hum Mutat. 2022 Jun;43(6):782-790
pubmed: 35191117
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15
pubmed: 29044468
Cell Genom. 2021 Nov 10;1(2):None
pubmed: 34820660
Nat Biotechnol. 2019 Mar;37(3):220-224
pubmed: 30833764
Hum Mutat. 2017 Jul;38(7):751-763
pubmed: 28332257
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Genet Med. 2019 Apr;21(4):798-812
pubmed: 30655598
Genet Med. 2022 Apr;24(4):784-797
pubmed: 35148959
Am J Hum Genet. 2015 Aug 6;97(2):199-215
pubmed: 26166479
Science. 2016 Jun 10;352(6291):1278-80
pubmed: 27284183
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Orphanet J Rare Dis. 2021 Aug 18;16(1):365
pubmed: 34407837