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- Title
Genomics: Scoring all human mutations.
- Authors
Rusk, Nicole
- Abstract
The article focuses on a research related to interpretation of mutations in a human genome with an annotation tool conducted by scientist Gregory Cooper and others. Topics discussed include analysis of output of all existing annotation tools into a single score, use of comparative data to train a support vector machine and combined annotation–dependent depletion (CADD) scores in interpreting the genomes of patients with Mendelian diseases caused by high-penetrance mutations.
- Subjects
GENETIC mutation; COOPER, Gregory; HUMAN genome; HUMAN genetic variation; GENETIC disorders; SUPPORT vector machines
- Publication
Nature Methods, 2014, Vol 11, Issue 4, p368
- ISSN
1548-7091
- Publication type
Article
- DOI
10.1038/nmeth.2915