snpeff
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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.
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Nov 20, 2024
Highly Open Workflow for Annotation & Ranking toward genomic variant Discovery
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Mar 12, 2025 - Python
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
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May 18, 2020 - Python
A collection of scripts for filtering annotated variant call format files
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Dec 17, 2024 - Shell
A tool to import SnpEff annotated files to a Neo4j Graph database
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Dec 8, 2022 - Python
Snakemake workflow designed to annotate VCF files withe SnpEff / SniSift
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Feb 18, 2021 - Python
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
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Jun 7, 2024 - Python
Genomic Analysis Pipeline: Automate data preprocessing, variant calling, and annotation with Snakemake. Ensure reproducibility and reliability in genomic studies.
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May 3, 2024 - HTML
A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.
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Nov 26, 2024 - R
R code to parse Manta SV data annotated using SnpEff
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Feb 24, 2025 - R
A pipeline for filtering annotated variant call format files
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Jan 20, 2025 - Python
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