Detecting and annotating genetic variations using the HugeSeq pipeline.
- Resource Type
- Article
- Authors
- Lam, Hugo Y K; Pan, Cuiping; Clark, Michael J; Lacroute, Phil; Chen, Rui; Haraksingh, Rajini; O'Huallachain, Maeve; Gerstein, Mark B; Kidd, Jeffrey M; Bustamante, Carlos D; Snyder, Michael
- Source
- Nature Biotechnology. Mar2012, Vol. 30 Issue 3, p226-229. 4p.
- Subject
- *HUMAN genetic variation
*GENOMICS
*GENETICS
*BIOLOGICAL variation
*GENOMES
- Language
- ISSN
- 1087-0156
The article discusses the detection and annotation of genetic variations through the use of the HugeSeq pipeline. HugeSeq is an integrated computational pipeline for the full automation of the process of variant detection from alignment of the genomic sequences. The use of the Genome Analysis ToolKit (GATK) realigner in the study is also cited.