Cargando…
The impact of GeneMatcher on international data sharing and collaboration
GeneMatcher (genematcher.org) is a tool designed to connect individuals with an interest in the same gene. Now used around the world to create collaborations and generate the evidence needed to support novel disease gene identification, GeneMatcher is a founding member of the Matchmaker Exchange (MM...
Autores principales: | Hamosh, Ada, Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Doheny, Kimberly F., Valle, David, Sobreira, Nara |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133194/ https://www.ncbi.nlm.nih.gov/pubmed/35170833 http://dx.doi.org/10.1002/humu.24350 |
Ejemplares similares
-
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
por: Wohler, Elizabeth, et al.
Publicado: (2021) -
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher
por: Towne, Meghan C., et al.
Publicado: (2022) -
Discovery of over 200 new and expanded genetic conditions using GeneMatcher
por: McWalter, K., et al.
Publicado: (2022) -
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
por: Rasi, Chiara, et al.
Publicado: (2022) -
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
por: Rodrigues, Eliete da S., et al.
Publicado: (2022)