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- Title
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
- Authors
Cooper, Gregory M.; Goode, David L.; Ng, Sarah B.; Sidow, Arend; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.
- Abstract
The article informs that identifying disease-causing variants in individual human genomes is a major challenge and analysis of nucleotide-level sequence conservation may help in addressing this challenge. A team of researchers noted that protein-based approaches could similarly be used to reduce candidate gene lists. Even in exomes, this allows for the possibility that synonymous variants contribute to disease.
- Subjects
NUCLEOTIDE sequence; GENOMES; GENETIC research; PROTEINS; HUMAN genome; NUCLEOTIDE separation
- Publication
Nature Methods, 2010, Vol 7, Issue 4, p250
- ISSN
1548-7091
- Publication type
Article
- DOI
10.1038/nmeth0410-250