biostudies-literatureUnknown4(9)Sifrim AThe 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.Genome medicine73https://www.ebi.ac.uk/biostudies/studies/S-EPMC3580443biostudies-literatureAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.PMC3580443Vermeesch JRMoreau YSifrim AVan Houdt JKTranchevent LCNowakowska BPavlopoulos GASakai RAerts JDevriendt KfalseAnnotate-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 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.2012-01-01T00:00:00Z20122025-04-22T09:00:54.041Z2019-03-27T01:05:10ZS-EPMC35804432301364510.1186/gm374