title: A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.
abstract: Whole-exome sequencing has become a fundamental tool for the discovery of disease-related genes of familial diseases and the identification of somatic driver variants in cancer. However, finding the causal mutation among the enormous background of individual variability in a small number of samples is still a big challenge. Here we describe a web-based tool, BiERapp, which efficiently helps in the identification of causative variants in family and sporadic genetic diseases. The program reads lists of predicted variants (nucleotide substitutions and indels) in affected individuals or tumor samples and controls. In family studies, different modes of inheritance can easily be defined to filter out variants that do not segregate with the disease along the family. Moreover, BiERapp integrates additional information such as allelic frequencies in the general population and the most popular damaging scores to further narrow down the number of putative variants in successive filtering steps. BiERapp provides an interactive and user-friendly interface that implements the filtering strategy used in the context of a large-scale genomic project carried out by the Spanish Network for Research in Rare Diseases (CIBERER) in which more than 800 exomes have been analyzed. BiERapp is freely available at: http://bierapp.babelomics.org/
authors.affiliation: Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Alemán
authors.affiliation: Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Garcia-Garcia
authors.affiliation: Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Salavert
authors.affiliation: Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Medina
authors.affiliation: Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain jdopazo@cipf.es.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Dopazo
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D004194:Disease / Q000235:genetics; D059472:Exome; D005787:Gene Frequency; D005796:Genes; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D020407:Internet; D012984:Software