Projects in Awesome Lists tagged with variant-analysis
A curated list of projects in awesome lists tagged with variant-analysis .
https://github.com/patois/HexraysToolbox
Hexrays Toolbox - Find code patterns within the Hexrays ctree
ast bug-finding code-comparison code-pattern-matching code-similarity ctree decompiler hex-rays hexrays hexrays-decompiler hexrays-toolbox ida-pro idapython idapython-script loops pattern-matching plagiarism-detection reverse-engineering variant-analysis vulnerability-scanner
Last synced: 15 Mar 2025
https://github.com/biocommons/hgvs
Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).
bioinformatics genome-analysis genomics hgvs sequencing transcript variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/brentp/slivar
genetic variant expressions, annotation, and filtering for great good.
genomics rare-disease rare-variant-analysis variant-analysis variant-interpretation
Last synced: 26 Jan 2026
https://github.com/brentp/echtvar
using all the bits for echt rapid variant annotation and filtering
genetic-variants genomics variant-analysis variant-annotations
Last synced: 04 Apr 2025
https://github.com/KarchinLab/open-cravat
A modular annotation tool for genomic variants
annotation-tool bioinformatics bioinformatics-pipeline bioinformatics-tool genomic-data-analysis genomics javascript python python3 variant-analysis variant-annotation variant-annotations
Last synced: 16 Nov 2025
https://github.com/karchinlab/open-cravat
A modular annotation tool for genomic variants
annotation-tool bioinformatics bioinformatics-pipeline bioinformatics-tool genomic-data-analysis genomics javascript python python3 variant-analysis variant-annotation variant-annotations
Last synced: 16 May 2025
https://github.com/appthreat/atom
atom is a novel intermediate representation for applications and a standalone tool that is powered by chen.
application-analytics code-analysis exploit-prediction intermediate-representation reachability-analysis supply-chain variant-analysis vulnerability-analysis
Last synced: 27 Jun 2026
https://github.com/biocommons/biocommons.seqrepo
non-redundant, compressed, journalled, file-based storage for biological sequences
bioinformatics genome-analysis genomics sequencing variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/bio-ontology-research-group/phenomenet-vp
A phenotype-based tool for variant prioritization in WES and WGS data
disease omim phenotypes prioritize-disease-variants rare-variants synthetic-genomes translationalscience variant-analysis variant-annotations variants vcf-files
Last synced: 25 Jan 2026
https://github.com/illumina/witty.er
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
benchmarking cnv copy-number-variation structural-variation variant-analysis variants
Last synced: 10 Apr 2025
https://github.com/biocommons/bioutils
provides common tools and lookup tables used primarily by the hgvs and uta packages
bioinformatics genome-analysis genomics sequencing variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/bihealth/auto-acmg
Automatic classification of sequence variants and CNVs according to ACMG criteria.
acmg-guidelines algorithm variant-analysis
Last synced: 12 Feb 2026
https://github.com/illumina/happyr
R tools to interact with hap.py output
bioinformatics r variant-analysis vcf-comparison
Last synced: 07 Aug 2025
https://github.com/trailofbits/mrva
A terminal-first approach to CodeQL multi-repo variant analysis
Last synced: 27 Jun 2026
https://github.com/ayoisio/variant-agents
Variant Agents: Multi-Agent Genomic Analysis
adk bigquery clinvar gemini gke gnomad google-cloud multi-agent-systems variant-analysis vep
Last synced: 14 May 2026
https://github.com/broadinstitute/g2papi
Python Client Library for the G2P Portal API
bioinformatics bioinformatics-tool bioinformatics-visualization isoforms protein-structure proteins sequence-alignment variant-analysis
Last synced: 05 Sep 2025
https://github.com/shiltemann/virtual-normal-correction
Set of commandline tools for analysis of tumor variants without a matching normal. Method described in Genome Research: http://genome.cshlp.org/content/25/9/1382.full
cancer-genomics genomics variant-analysis
Last synced: 19 Mar 2025
https://github.com/biocommons/seqrepo-rest-service
OpenAPI-based REST interface to biological sequences and sequence metadata
bioinformatics genome-analysis genomics sequencing variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/bio-ontology-research-group/embedpvp
EmbedPVP: Embedding-based Phenotype Variant Predictor
bioinformatics biomedical-ontologies genomic-variants knowledge-enhanced-learning neuro-symbolic prioritization-algorithm variant-analysis
Last synced: 25 Jan 2026
https://github.com/paulanerus/textvariantexplorer
A tool designed for the exploration, analysis, and comparison of textual data variants.
compose-multiplatform kotlin nlp semantic-search text-comparison text-mining text-search textual-analysis variant-analysis
Last synced: 11 Oct 2025
https://github.com/paulanerus/textexplorer
A tool designed for the exploration, analysis, and comparison of textual data variants.
compose-multiplatform kotlin text-comparison text-mining text-search textual-analysis variant-analysis
Last synced: 20 Aug 2025
https://github.com/tin-z/coccinelle_exercises
coccinelle notes and exercises
coccinelle code-analysis kernel variant-analysis vulnerability-research
Last synced: 10 Mar 2025
https://github.com/biocommons/.github
Organization-wide GitHub configuration
bioinformatics genome-analysis genomics sequencing variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/quinlan-lab/mendacity
language-agnostic testing for inheritance models
genomics mendelian-genetics variant-analysis vcf
Last synced: 01 Apr 2025
https://github.com/sydney-informatics-hub/germlineshortv_biovalidation
Workflow for biological validation of germline SNP and indel variant datasets.
germline indel snp validation variant-analysis variant-calling wgs wholegenomesequencing
Last synced: 15 Mar 2025
https://github.com/biocommons/biocommons.github.io
biocommons website
bioinformatics genome-analysis genomics sequencing variant-analysis variation
Last synced: 11 Mar 2026
https://github.com/ibchgenomic/evai-analyzer
eVaianalyzer for human genomics
cancer-diagnosis cancer-genomics cancer-research patient-management variant-analysis
Last synced: 30 Mar 2025
https://github.com/wm75/mimodd-lib
a core part of the MiModD package for use as a library
genetics mapping-by-sequencing ngs variant-analysis
Last synced: 13 Aug 2025
https://github.com/svm-zhang/tinyhgvs
Lightweight HGVS variant parser
bioinformatics genomics hgvs parser variant-analysis
Last synced: 05 Apr 2026
https://github.com/madsondeluna/getvar
O GetVar é uma ferramenta útil para o auxílio a diagnósticos genéticos e aconselhamentos, permitindo decisões baseadas em dados com respaldo científico, otimizando tempo e servindo de suporte ao sistema de decisão clínico.
beta-release genomics-analysis mutation mvp snp-calling variant-analysis
Last synced: 03 May 2026
https://github.com/madsondeluna/getvar_containerized
O GetVar é útil para o auxílio a diagnósticos genéticos e aconselhamentos, permitindo decisões baseadas em dados com respaldo científico, otimizando tempo e servindo de suporte ao sistema de decisão clínico.
mutation-analysis mvp variant-analysis vcf
Last synced: 03 May 2026
https://github.com/leooojr/vcfdelta
VCFDelta
bioinformatics python variant-analysis variant-calling variants vcf vcf-comparison
Last synced: 29 Mar 2025
https://github.com/rustcodepro/boostmer
kmer boosting on sequence reads
bioinformatics deep-neural-networks machine-learning neural-networks variant-analysis
Last synced: 25 Jan 2026
https://github.com/rustcodepro/varpred
a variant count approach to predict variant
bioinformatics deep-learning machine-learning variant-analysis variants
Last synced: 25 Jan 2026
https://github.com/gauravcodepro/bcftools-filter
making bcftools filtering easy. bcftools_filter which will allow for the faster filtering of the variant calls according to the allelic depth and the tags using simple to overlap approaches as compare to implementing the regular patterns.
bioinformatics-algorithms oxford-nanopore pacbio-data pacbio-sequencing sequencing variant-analysis variant-calling variants
Last synced: 19 Jul 2025
https://github.com/leooojr/divv
Differential Investigation of Variability in Variants
bioinformatics python variant-analysis variant-calling variants vcf vcf-comparison
Last synced: 17 May 2026
https://github.com/bigbio/hvantk
Hail variant annotation toolkit
big-data bigdata genomics hail variant-analysis
Last synced: 17 Jan 2026
