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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genome Med
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4736244/
https://ncbi.nlm.nih.gov/pubmed/26838676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0261-8
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia