ArticleAmerican journal of human genetics2017
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 668 papers, 1 of them a synthesis that pooled it.
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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
668 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- Circulating tumor DNA as a prognostic biomarker in metastatic colorectal cancer: Post-hoc analysis of treatment response and survival outcomes in the ALTER-C-002 study.Biomolecules & biomedicine · 2026Trial
- Neoadjuvant fuzuloparib combined with abiraterone for localized high-risk prostate cancer (FAST-PC): A single-arm phase 2 study.Cell reports. Medicine · 2025Trial
- Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.Molecular biology reports · 2026Review
- Precision oncology in advanced melanoma: molecular landscapes and personalized therapy recommendations from the Molecular Tumor Board Freiburg.NPJ precision oncology · 2026Article
- From genotype to phenotype: reverse phenotyping of a novel INSR variant in a large family with hyperinsulinemic hypoglycemia.Journal of applied genetics · 2026Article
- PHARMWATCH: A Proposed Multilayer Pharmacogenomics Framework for Contextual Star Allele Interpretation.Clinical and translational science · 2026Article
- Integrated Molecular, Clinicopathological and Immune Profiling of Non-Small Cell Lung Cancer: The MONREPOS Hellenic Cooperative Oncology Group (HeCOG) Study (HE_2TR/13).International journal of molecular sciences · 2026Article
- Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.Journal of medical genetics · 2026Article
- CADD-ThresholdApp: an interactive web application for calibrating CADD scores using ClinVar.BMC bioinformatics · 2026Article
- Patient-derived tumor organoids for personalized cancer immunotherapy: An immunopeptidome-to-validation approach in RCC and BC.Molecular therapy. Oncology · 2026Article
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
- Genomic profiling of Mexican patients with B-cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants.The journal of pathology. Clinical research · 2026Article
- Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids.Molecular cancer · 2026Article
- Germline genetic risk and prostate cancer-specific mortality in a population-based incident cohort.Prostate cancer and prostatic diseases · 2026Article
- A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling.European journal of human genetics : EJHG · 2026Article
- Report of two patients with variants in FOXL2 and KASH5 and review of gestational trophoblastic neoplasia after recurrent moles.Journal of assisted reproduction and genetics · 2026Article
- Genetic assessment of consecutively recruited dystonia cases from a single center.Neurogenetics · 2026Article
- AAVC: An automated framework for high-accuracy ACMG-based variant classification.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- CATVariant: a web server for integrated protein variant interpretation across sequence, structure, population, and clinical evidence.Nucleic acids research · 2026Article
608 more citing papers are in PubMed but not listed here.
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2 authors.
Funding
Abstract
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria. However, variability between individual interpreters can be extensive because of reasons such as the different understandings of these guidelines and the lack of standard algorithms for implementing them, yet computational tools for semi-automated variant interpretation are not available. To address these problems, we propose a suite of methods for implementing these criteria and have developed a tool called InterVar to help human reviewers interpret the clinical significance of variants. InterVar can take a pre-annotated or VCF file as input and generate automated interpretation on 18 criteria. Furthermore, we have developed a companion web server, wInterVar, to enable user-friendly variant interpretation with an automated interpretation step and a manual adjustment step. These tools are especially useful for addressing severe congenital or very early-onset developmental disorders with high penetrance. Using results from a few published sequencing studies, we demonstrate the utility of InterVar in significantly reducing the time to interpret the clinical significance of sequence variants.
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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.