{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["4(9)"],"submitter":["Sifrim A"],"pubmed_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."],"journal":["Genome medicine"],"pagination":["73"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3580443"],"repository":["biostudies-literature"],"pubmed_title":["Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease."],"pmcid":["PMC3580443"],"pubmed_authors":["Vermeesch JR","Moreau Y","Sifrim A","Van Houdt JK","Tranchevent LC","Nowakowska B","Pavlopoulos GA","Sakai R","Aerts J","Devriendt K"],"additional_accession":[]},"is_claimable":false,"name":"Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.","description":"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.","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012","modification":"2025-04-22T09:00:54.041Z","creation":"2019-03-27T01:05:10Z"},"accession":"S-EPMC3580443","cross_references":{"pubmed":["23013645"],"doi":["10.1186/gm374"]}}