Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance

Variants of Uncertain Significance (VUS) are genetic variants whose association with a disease phenotype has not been established. They are a common finding in sequencing-based genetic tests and pose a significant clinical challenge. The objective of this study was to assess the use of functional da...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:NPJ Genom Med
Egile Nagusiak: Woods, Nicholas T, Baskin, Rebekah, Golubeva, Volha, Jhuraney, Ankita, De-Gregoriis, Giuliana, Vaclova, Tereza, Goldgar, David E, Couch, Fergus J, Carvalho, Marcelo Alex, Iversen, Edwin S, Monteiro, Alvaro NA
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5539989/
https://ncbi.nlm.nih.gov/pubmed/28781887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.1
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