ArticleBMC bioinformatics2017
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.
Article in BMC bioinformatics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- Review
- 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
- Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Briefings in bioinformatics · 2022Article
- GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.BMC medical genomics · 2022Article
- Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.Genes · 2021Article
- Article
- A decision tree to improve identification of pathogenic mutations in clinical practice.BMC medical informatics and decision making · 2020Article
- Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.International journal of molecular sciences · 2020Article
- Using mechanistic models for the clinical interpretation of complex genomic variation.Scientific reports · 2019Article
- Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with αScientific reports · 2019Article
- VIPdb, a genetic Variant Impact Predictor Database.Human mutation · 2019Article
- MutationDistiller: user-driven identification of pathogenic DNA variants.Nucleic acids research · 2019Article
- VarAFT: a variant annotation and filtration system for human next generation sequencing data.Nucleic acids research · 2018Article
- Disease Ontology: improving and unifying disease annotations across species.Disease models & mechanisms · 2018Article
- Rapid clinical diagnostic variant investigation of genomic patient sequencing data withJournal of clinical and translational science · 2017Article
- A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.PloS one · 2017Article
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Authors and funding
15 authors.
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Abstract
backgroundWhole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis.
resultsHere we describe QueryOR, a web platform suitable for searching among known candidate genes as well as for finding novel gene-disease associations. QueryOR combines several innovative features that make it comprehensive, flexible and easy to use. Instead of being designed on specific datasets, it works on a general XML schema specifying formats and criteria of each data source. Thanks to this flexibility, new criteria can be easily added for future expansion. Currently, up to 70 user-selectable criteria are available, including a wide range of gene and variant features. Moreover, rather than progressively discarding variants taking one criterion at a time, the prioritization is achieved by a global positive selection process that considers all transcript isoforms, thus producing reliable results. QueryOR is easy to use and its intuitive interface allows to handle different kinds of inheritance as well as features related to sharing variants in different patients. QueryOR is suitable for investigating single patients, families or cohorts.
conclusionsQueryOR is a comprehensive and flexible web platform eligible for an easy user-driven variant prioritization. It is freely available for academic institutions at http://queryor.cribi.unipd.it/ .
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