Article

Germline VCF Annotator: a lightweight pipeline for processing germline VCFs with robust variant extraction and read evidence quality control

2026-04-09

Abstract excerpt

<h4>ABSTRACT</h4> Raw variant calls are typically distributed as VCF files and are not well-suited for direct human review. They are intended for programmatic parsing, and spreadsheet import can distort data through automatic type conversion. Furthermore, variants in VCF are commonly annotated to add gene context and predicted functional consequences. Ensembl VEP, a widely used standard for transcript-aware varia...

Topics

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

Identifiers and source

Literature Corpus work: 263812c1-b1da-555a-98c1-5c9554c5f150
DOI: 10.64898/2026.04.06.716730

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Germline VCF Annotator: a lightweight pipeline for processing germline VCFs with robust variant extraction and read evidence quality controlDOI 10.64898/2026.04.06.716730Read

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

Application of qualifying variants for genomic analysisSemantic proximity Read

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

GAVIN - Gene-Aware Variant INterpretation for medical sequencingSemantic proximity Read

Accurate somatic variant detection from formalin fixed, paraffin embedded tissue (FFPE) derived WES and WGS by DeepOmicsFFPE-PLUS, a sequence context-based transformerSemantic proximity Read

Application of qualifying variants for genomic analysis.Semantic proximity Read

Complex Indel Detection: A Simulation-Based Framework and Parsing with FreeBayesSemantic proximity Read

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variantsSemantic proximity Read

Evolution of the open-access CIViC knowledgebase is driven by the needs of the cancer variant interpretation communitySemantic proximity Read

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.Semantic proximity Read

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Semantic proximity Read

Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset.Semantic proximity Read