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- Title
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.
- Authors
Sifrim, Alejandro; Van Houdt, Jeroen K. J.; Tranchevent, Leon-Charles; Nowakowska, Beata; Sakai, Ryo; Pavlopoulos, Georgios A.; Devriendt, Koen; Vermeesch, Joris R.; Moreau, Yves; Aerts, Jan
- Abstract
The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering existing knowledge concerning the phenotype. We describe a methodology that facilitates exploration of patient sequencing data towards identification of causal variants under different genetic hypotheses. Annotate-it facilitates handling, analysis and interpretation of high-throughput single nucleotide variant data. We demonstrate our strategy using three case studies. Annotate-it is freely available and test data are accessible to all users at http://www.annotate-it.org.
- Subjects
MEDICAL genetics; HUMAN genetic variation; SINGLE nucleotide polymorphisms; RESEARCH methodology; NUCLEOTIDE sequence; DATA analysis
- Publication
Genome Medicine, 2012, Vol 4, Issue 9, p1
- ISSN
1756-994X
- Publication type
Case Study
- DOI
10.1186/gm374