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- Title
Combinatorics and next-generation sequencing.
- Authors
Patterson, Nick; Gabriel, Stacey
- Abstract
The article discusses two studies that show developments in the application of combinatorics in DNA sequencing technology. Combinatorics allows the sequencing and decoding of pooled samples en masse. The focus of the article is on methods for discovering rare mutations which are likely to account for much of the genetic basis of disease. The first study proposes methods that allow rare alleles to be discovered and that determine with high probability which samples contain the allele, while the second study deals primarily with discovering rare alleles, though both of their designs are able to detect and identify singletons.
- Subjects
COMBINATORICS; NUCLEOTIDE sequence; GENETIC mutation; MEDICAL genetics; PROBABILITY theory; GENES
- Publication
Nature Biotechnology, 2009, Vol 27, Issue 9, p826
- ISSN
1087-0156
- Publication type
Article
- DOI
10.1038/nbt0909-826