Variant-level matching for diagnosis and discovery: Challenges and opportunities.

TitleVariant-level matching for diagnosis and discovery: Challenges and opportunities.
Publication TypeJournal Article
Year of Publication2022
AuthorsRodrigues, Eda S, Griffith, S, Martin, R, Antonescu, C, Posey, JE, Coban-Akdemir, Z, Jhangiani, SN, Doheny, KF, Lupski, JR, Valle, D, Bamshad, MJ, Hamosh, A, Sheffer, A, Chong, JX, Einhorn, Y, Cupak, M, Sobreira, N
JournalHum Mutat
Date Published2022 Jun
KeywordsDatabases, Genetic, Exome, Genomics, Humans, Information Dissemination, Phenotype

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).

Alternate JournalHum Mutat
PubMed ID35191117
PubMed Central IDPMC9133151
Grant ListP50 HD103538 / HD / NICHD NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States

Similar Publications