ArticleNucleic acids research2014
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 42 citations in OpenAlex.
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.Epigenetics & chromatin · 2023Article
- Phenotype-aware prioritisation of rare Mendelian disease variants.Trends in genetics : TIG · 2022Review
- Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Human mutation · 2022Review
- Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling.Human molecular genetics · 2022Article
- Computational approaches for predicting variant impact: An overview from resources, principles to applications.Frontiers in genetics · 2022Review
- Article
- Using mechanistic models for the clinical interpretation of complex genomic variation.Scientific reports · 2019Article
- VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.Bioinformatics (Oxford, England) · 2019Article
- MutationDistiller: user-driven identification of pathogenic DNA variants.Nucleic acids research · 2019Article
- PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources.BMC bioinformatics · 2019Article
- GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects.BMC bioinformatics · 2019Article
- VarAFT: a variant annotation and filtration system for human next generation sequencing data.Nucleic acids research · 2018Article
- BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files.Briefings in bioinformatics · 2017Article
- VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Nucleic acids research · 2017Article
- QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.BMC bioinformatics · 2017Article
- PERCH: A Unified Framework for Disease Gene Prioritization.Human mutation · 2017Article
- 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.Molecular biology and evolution · 2016Article
- Understanding the pathogenesis of hip fracture in the elderly, osteoporotic theory is not reflected in the outcome of prevention programmes.World journal of orthopedics · 2016Article
- Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Scientific reports · 2016Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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/
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.