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- Title
Using bioinformatics to predict the functional impact of SNVs.
- Authors
Cline, Melissa S; Karchin, Rachel
- Abstract
The past decade has seen the introduction of fast and relatively inexpensive methods to detect genetic variation across the genome and exponential growth in the number of known single nucleotide variants (SNVs). There is increasing interest in bioinformatics approaches to identify variants that are functionally important from millions of candidate variants. Here, we describe the essential components of bioinformatics tools that predict functional SNVs.
- Publication
Bioinformatics (Oxford, England), 2011, Vol 27, Issue 4, p441
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/btq695