A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

BACKGROUND: Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenot...

Descripción completa

Detalles Bibliográficos
Autores principales: James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736244/
https://www.ncbi.nlm.nih.gov/pubmed/26838676
http://dx.doi.org/10.1186/s13073-016-0261-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736244/
https://www.ncbi.nlm.nih.gov/pubmed/26838676
http://dx.doi.org/10.1186/s13073-016-0261-8

Ejemplares similares