ArticleBioinformatics (Oxford, England)2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed.
- SMARCAL1 is a new osteosarcoma predisposition gene.Journal of the National Cancer Institute · 2026Article
- Genomic ascertainment ofmedRxiv : the preprint server for health sciences · 2026Article
- Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.medRxiv : the preprint server for health sciences · 2026Article
- Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.PloS one · 2026Article
- CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes.Genes & diseases · 2026Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.Nature communications · 2025Article
- Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation.Circulation. Genomic and precision medicine · 2025Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.medRxiv : the preprint server for health sciences · 2025Article
- A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Review
- Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.Molecular genetics & genomic medicine · 2025Article
- Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Article
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
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14 authors.
Funding
Abstract
summaryWith the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics-Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from ClinVar and sequence variant classifications from a modified version of InterVar (PVS1 strength adjustments, removal of PP5/BP6). This tool facilitates large-scale, clinically focused classification of germline sequence variants in a research setting. AVAILABILITY AND IMPLEMENTATION: AutoGVP is an open source dockerized workflow implemented in R and freely available on GitHub at https://github.com/diskin-lab-chop/AutoGVP.
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Registered trials
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.