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
Tranchevent, Léon-Charles
Nowakowska, Beata
Sakai, Ryo
Pavlopoulos GA, Georgios
Devriendt, Koenraad
Vermeesch, Joris
Moreau, Yves
Aerts, Jan #
Issue Date: Sep-2012
Publisher: BioMed Central
Series Title: Genome Medicine vol:4 issue:73 pages:1-12
Abstract: 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
ISSN: 1756-994X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Laboratory for Cytogenetics and Genome Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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