ArticleNucleic acids research2019
MutationDistiller: user-driven identification of pathogenic DNA variants.
Article in Nucleic acids research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed.
- AWTI-Net Enables Accurate and Interpretable Functional Assessment of Disease-Associated LncRNA Mutations.Interdisciplinary sciences, computational life sciences · 2026Article
- Toward a Common Set of Interface Requirements for Genomic Data Management: Scoping Review.Journal of medical Internet research · 2026Article
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
- GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.Computational and structural biotechnology journal · 2026Article
- Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.Molecular diagnosis & therapy · 2025Article
- Article
- Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelicJBMR plus · 2025Article
- Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.International journal of molecular sciences · 2025Article
- REEV: review, evaluate and explain variants.Nucleic acids research · 2024Article
- A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.Pharmacogenomics and personalized medicine · 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
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.The Journal of clinical endocrinology and metabolism · 2022Article
- Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Human genetics · 2022Article
- 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
- Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.Frontiers in molecular biosciences · 2022Article
- Computational Resources for the Interpretation of Variations in Cancer.Advances in experimental medicine and biology · 2022Article
- MutationTaster2021.Nucleic acids research · 2021Article
- Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.Journal of inherited metabolic disease · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians. MutationDistiller combines MutationTaster's pathogenicity predictions with a phenotype-based approach. Phenotypic information is not limited to symptoms included in the Human Phenotype Ontology (HPO), but may also comprise clinical diagnoses and the suspected mode of inheritance. The search can be restricted to lists of candidate genes (e.g. virtual gene panels) and by tissue-specific gene expression. The inclusion of GeneOntology (GO) and metabolic pathways facilitates the discovery of hitherto unknown disease genes. In a novel approach, we trained MutationDistiller's HPO-based prioritization on authentic genotype-phenotype sets obtained from ClinVar and found it to match or outcompete current prioritization tools in terms of accuracy. In the output, the program provides a list of potential disease mutations ordered by the likelihood of the affected genes to cause the phenotype. MutationDistiller provides links to gene-related information from various resources. It has been extensively tested by clinicians and their suggestions have been valued in many iterative cycles of revisions. The tool, a comprehensive documentation and examples are freely available at https://www.mutationdistiller.org/.
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