Article
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
Scientific reports - 27 May 2021
Poon Kok-Siong
Abstract excerpt
Over the years since the genetic testing of BRCA1 and BRCA2 has been conducted for research and later introduced into clinical practice, a high number of missense variants have been reported in the literature and deposited in public databases. Polymorphism Phenotyping v2 (PolyPhen-2) and Sorting Intolerant from Tolerant (SIFT) are two widely applied bioinformatics tools used to assess the functional impacts of...
Topics
- BRCA1 Protein
- BRCA2 Protein
- Computational Biology
- Computer Simulation
- Female
- Genetic Predisposition to Disease
- Humans
- Molecular Diagnostic Techniques
- Mutation, Missense
- Polymorphism, Single Nucleotide