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An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

The implementation of next-generation sequence analysis of disease-related genes has resulted in a increasing number of genetic variants with an unknown clinical significance. The functional analysis of these so-called “variants of uncertain significance” (VUS) is hampered by the tedious and time-co...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: Hendriks, Giel, Morolli, Bruno, Calléja, Fabienne M.G.R., Plomp, Anouk, Mesman, Romy L.S., Meijers, Matty, Sharan, Shyam K., Vreeswijk, Maaike P.G., Vrieling, Harry
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6706860/
https://ncbi.nlm.nih.gov/pubmed/25146914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22678
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