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Updated: May 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in
Alejandro Sifrim1, Jeroen Kj Van Houdt2, Leon-Charles Tranchevent1
1KU Leuven, Department of Electrical Engineering-ESAT, SCD-SISTA, Kasteelpark Arenberg 10, B-3001, Leuven, Belgium ; IBBT Future Health Department, Kasteelpark Arenberg 10, B-3001, Leuven, Belgium.
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.
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