PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

BACKGROUND: With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for disease genes and variants potentially contributing to disease phenotypes. The co...

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Detalles Bibliográficos
Autores principales: Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371856/
https://www.ncbi.nlm.nih.gov/pubmed/34407837
http://dx.doi.org/10.1186/s13023-021-01916-z

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