ArticleNucleic acids research2015
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 40 citations in OpenAlex.
- Article
- Essentiality, protein-protein interactions and evolutionary properties are key predictors for identifying cancer-associated genes using machine learning.Scientific reports · 2024Article
- STIGMA: Single-cell tissue-specific gene prioritization using machine learning.American journal of human genetics · 2024Article
- Ohnologs and SSD Paralogs Differ in Genomic and Expression Features Related to Dosage Constraints.Genome biology and evolution · 2023Article
- Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.Brain : a journal of neurology · 2023Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.STAR protocols · 2022Article
- Article
- Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study.Journal of clinical medicine · 2021Article
- Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Neurological manifestations of COVID-19: available evidences and a new paradigm.Journal of neurovirology · 2020Review
- Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm.Human genetics · 2019Article
- Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.BMC medical genomics · 2018Article
- The human noncoding genome defined by genetic diversity.Nature genetics · 2018Article
- Article
- Human gene essentiality.Nature reviews. Genetics · 2018Review
- HIPred: an integrative approach to predicting haploinsufficient genes.Bioinformatics (Oxford, England) · 2017Article
- Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data.Bioinformatics (Oxford, England) · 2016Article
- A new tool for prioritization of sequence variants from whole exome sequencing data.Source code for biology and medicine · 2016Article
- Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.NPJ genomic medicine · 2016Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Methods to interpret personal genome sequences are increasingly required. Here, we report a novel framework (EvoTol) to identify disease-causing genes using patient sequence data from within protein coding-regions. EvoTol quantifies a gene's intolerance to mutation using evolutionary conservation of protein sequences and can incorporate tissue-specific gene expression data. We apply this framework to the analysis of whole-exome sequence data in epilepsy and congenital heart disease, and demonstrate EvoTol's ability to identify known disease-causing genes is unmatched by competing methods. Application of EvoTol to the human interactome revealed networks enriched for genes intolerant to protein sequence variation, informing novel polygenic contributions to human disease.
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