ArticleNature protocols2015
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Article in Nature protocols, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 279 papers, 1 of them a synthesis that pooled it.
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Who cites it
279 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- A recurrentBiochemistry and biophysics reports · 2026Article
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- RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.medRxiv : the preprint server for health sciences · 2026Article
- Automated reanalysis of genomic data for rare disease diagnostics at scale.Nature medicine · 2026Article
- Artificial Intelligence in Clinical Genetics: Current Applications and Challenges.Indian journal of pediatrics · 2026Review
- Genetic and structural characterisation of alzheimer's disease associated variants in an Eastern Indian cohort.Metabolic brain disease · 2026Article
- RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.Genome medicine · 2026Article
- Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.BMC pediatrics · 2026Article
- G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.Journal of translational medicine · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.Molecular genetics & genomic medicine · 2026Article
- Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.Neurogenetics · 2026Article
219 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian disease. Exomiser comprises a suite of algorithms for prioritizing exome sequences using random-walk analysis of protein interaction networks, clinical relevance and cross-species phenotype comparisons, as well as a wide range of other computational filters for variant frequency, predicted pathogenicity and pedigree analysis. In this protocol, we provide a detailed explanation of how to install Exomiser and use it to prioritize exome sequences in a number of scenarios. Exomiser requires ∼3 GB of RAM and roughly 15-90 s of computing time on a standard desktop computer to analyze a variant call format (VCF) file. Exomiser is freely available for academic use from http://www.sanger.ac.uk/science/tools/exomiser.
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