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Annotate-it : a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
Journal Contribution - Journal Article
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 is accessible to all users at http://www.annotate-it.org.
Journal: Genome Medicine
Pages: 1 - 12