vep

Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms

Characterization of Germline variants

Generic human DNA variant annotation pipeline

This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.

Variant Agents: Multi-Agent Genomic Analysis

HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.

C# program to superpose SSVEP and c-VEP flickers on top of other graphical interfaces

Pipeline for variant annotation using Variant Effect Predictor (VEP)

GATK 4 Mutect2 Somático

vepyr (/ˈvaɪpər/) — VEP Yielding Performant Results — a blazing-fast Rust reimplementation of Ensembl's Variant Effect Predictor.

population structural variant calling with smoove

Multi-source germline variant annotation pipeline

End-to-end somatic and germline variant calling pipeline using BWA, GATK HaplotypeCaller, VEP and ANNOVAR for tumor NGS analysis

variant annotation workflow with VEP

Gaze data -based epoch selection algorithm for eye tracker assisted visual evoked potential paradigm

A local API-based biological engine that uses Tracy for sequence alignment and VEP for variant annotation. Built with Python for computational biology and bioinformatics analysis.

CortiPy – Python-based EEG measurement and analysis framework for research and educational applications.

Comprehensive Sanger sequence analysis and clinical reporting tool. Identifies SNVs and Indels precisely while keeping your genetic data secure locally.

End-to-end DNA sequencing variant calling and functional annotation pipeline using FastQC, fastp, BWA-MEM, SAMtools, Picard, GATK HaplotypeCaller, and Ensembl VEP on human NGS datasets.