Article

Towards automation of germline variant curation in clinical cancer genetics

2018-04-05

Abstract excerpt

Cancer care professionals are confronted with interpreting results from multiplexed gene sequencing of patients at hereditary risk for cancer. Assessments for variant classification now require orthogonal data searches, requiring aggregation of multiple lines of evidence from diverse resources. The burden of evidence for each variant to meet thresholds for pathogenicity or actionability now poses a growing challen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1e362efa-a723-5ad5-b497-0e980adb5a0b
DOI: 10.1101/295865

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Towards automation of germline variant curation in clinical cancer geneticsDOI 10.1101/295865Read

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

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

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

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

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

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classificationSemantic proximity Read

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationSemantic proximity Read

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.Semantic proximity Read

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

A systematic approach to assessing the clinical significance of genetic variants.Semantic proximity Read

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.Semantic proximity Read