BiERapp

BiERapp is a web-based tool for identifying causative variants in familial and sporadic genetic diseases using whole-exome sequencing data. The tool efficiently filters variant lists from affected individuals or tumor samples and controls, considering factors such as inheritance patterns, allelic frequencies in the general population, and popular damaging scores.

BiERapp provides an interactive and user-friendly interface that streamlines the filtering process, making it easier to pinpoint the causal mutation among the vast background of individual variability in a small number of samples. The tool has been successfully used in a large-scale genomic project by the Spanish Network for Research in Rare Diseases (CIBERER), where more than 800 exomes were analyzed.

Topic

Exome sequencing;Pathology;Molecular interactions, pathways and networks;Genetic variation;Rare diseases

Detail

  • Operation: Sequence analysis;Variant calling;Variant filtering;Filtering;Genetic variation analysis

  • Software interface: Web application

  • Language: JavaScript

  • License: Not stated

  • Cost: Free of charge

  • Version name: -

  • Credit: The Spanish Ministry of Economy and Competitiveness (MINECO), Conselleria d’Educacio of the Valencia Community.

  • Input: -

  • Output: -

  • Contact: BiERapp team babelomics@cipf.es

  • Collection: -

  • Maturity: Mature

Publications

  • A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.
  • Alemán A, et al. A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. 2014; 42:W88-93. doi: 10.1093/nar/gku407
  • https://doi.org/10.1093/nar/gku407
  • PMID: 24803668
  • PMC: PMC4086071

Download and documentation

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