Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

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 ex...

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Bibliographic Details
Published in:Genome medicine 2012-09, Vol.4 (9), p.73-73, Article 73
Main Authors: Sifrim, Alejandro, Van Houdt, Jeroen Kj, Tranchevent, Leon-Charles, Nowakowska, Beata, Sakai, Ryo, Pavlopoulos, Georgios A, Devriendt, Koen, Vermeesch, Joris R, Moreau, Yves, Aerts, Jan
Format: Article
Language:English
Subjects:
Analysis
Case studies
Data processing
Genomes
Genomics
Multiprocessing
Nucleotides
Software
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Summary: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.
ISSN:1756-994X
1756-994X
DOI:10.1186/gm374