A scalable, aggregated genotypic–phenotypic database for human disease variation

Next generation sequencing multi-gene panels have greatly improved the diagnostic yield and cost effectiveness of genetic testing and are rapidly being integrated into the clinic for hereditary cancer risk. With this technology comes a dramatic increase in the volume, type and complexity of data. Th...

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Detalles Bibliográficos
Autores principales: Barrett, Ryan, Neben, Cynthia L, Zimmer, Anjali D, Mishne, Gilad, McKennon, Wendy, Zhou, Alicia Y, Ginsberg, Jeremy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372842/
https://www.ncbi.nlm.nih.gov/pubmed/30759220
http://dx.doi.org/10.1093/database/baz013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372842/
https://www.ncbi.nlm.nih.gov/pubmed/30759220
http://dx.doi.org/10.1093/database/baz013

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