Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. [electronic resource]
- Human mutation Jul 2013
- 945-52 p. digital
Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22322 doi
Computational Biology--methods Exome--genetics Genetic Predisposition to Disease Genetic Variation Genome, Human--genetics Humans Polymorphism, Single Nucleotide--genetics Sequence Analysis, DNA--methods Software