Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer-related genes.

Human mutation - 1 Apr 2021

Li Hong, Liu Shuixia, Wang Shuangying, Zeng Quanlei, Chen Yulan, Fang Ting, Zhang Yi, Zhou Ying, Zhang Yu, Wang Kaiyue, Yan Zhangwei, Qiang Cuicui, Xu Meng, Chai Xianghua, Yuan Yuying, Huang Ming, Zhang Hongyun, Xiong Yun

Abstract excerpt

Cancer is one of the most important health issues globally and the accuracy of interpretation of cancer-related variants is critical for the clinical management of hereditary cancer. ClinGen Sequence Variant Interpretation Working Groups have developed many adaptations of American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines to improve the consistency of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Predisposition to Disease
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Germ Cells

Share to Neoplasms

Share to Software

Share to United States

Source

Identifiers

PMID: 33565189
DOI: 10.1002/humu.24177

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer-related genes.PMID 33565189Read ↗

Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genesSemantic proximity Read ↗

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.Semantic proximity Read ↗

Towards automation of germline variant curation in clinical cancer geneticsSemantic proximity Read ↗

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.Semantic proximity Read ↗

Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.Semantic proximity Read ↗

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genesSemantic proximity Read ↗

Automating ACMG Variant Classifications Using BIAS-2015: An Algorithm Overview and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity Read ↗

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic VariantsSemantic proximity Read ↗

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.Semantic proximity Read ↗

ClinVar Database Evolution and Impact on Potential Pathogenic Germline Variant Reporting from Tumor Comprehensive Genomic Profiling.Semantic proximity Read ↗

Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity Read ↗

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.