Hap.pyHaplotype VCF comparison tools
BiopythonOfficial git repository for Biopython (originally converted from CVS)
Cyvcf2cython + htslib == fast VCF and BCF processing
DragonnA toolkit to learn how to model and interpret regulatory sequence data using deep learning.
BowtieAn ultrafast memory-efficient short read aligner
HtsjdkA Java API for high-throughput sequencing data (HTS) formats.
PyrangesPerformant Pythonic GenomicRanges
MiniasmUltrafast de novo assembly for long noisy reads (though having no consensus step)
Bedops🔬 BEDOPS: high-performance genomic feature operations
GenomeworksSDK for GPU accelerated genome assembly and analysis
HiglassFast large scale matrix visualization for the web.
FlowcraftFlowCraft: a component-based pipeline composer for omics analysis using Nextflow. 🐳📦
MinigraphProof-of-concept seq-to-graph mapper and graph generator
JuicerA One-Click System for Analyzing Loop-Resolution Hi-C Experiments
SequenceserverIntuitive local web frontend for the BLAST bioinformatics tool
IntermineA powerful open source data warehouse system
DeepvariantDeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
RibbonA genome browser that shows long reads and complex variants better
IdeogramChromosome visualization for the web
Janggu Deep learning infrastructure for bioinformatics
Deep RulesTen Quick Tips for Deep Learning in Biology
RoaryRapid large-scale prokaryote pan genome analysis
Goleftgoleft is a collection of bioinformatics tools distributed under MIT license in a single static binary
GlowAn open-source toolkit for large-scale genomic analysis
VcfrTools to work with variant call format files
Smoovestructural variant calling and genotyping with existing tools, but, smoothly.
HgvsPython library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
ArtemisArtemis is a free genome viewer and annotation tool that allows visualization of sequence features and the results of analyses within the context of the sequence, and its six-frame translation
HifiasmHifiasm: a haplotype-resolved assembler for accurate Hifi reads
OctopusBayesian haplotype-based mutation calling
Hts Nimnim wrapper for htslib for parsing genomics data files
Miso LimsMISO: An open-source LIMS for NGS sequencing centres
Benchmarking ToolsRepository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
Somalierfast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"
SarekDetect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
Kmer CntCode examples of fast and simple k-mer counters for tutorial purposes
CirclatorA tool to circularize genome assemblies
HicexplorerHiCExplorer is a powerful and easy to use set of tools to process, normalize and visualize Hi-C data.
NglessNGLess: NGS with less work
QqmanAn R package for creating Q-Q and manhattan plots from GWAS results
CoolerA cool place to store your Hi-C
CgrangesA C/C++ library for fast interval overlap queries (with a "bedtools coverage" example)
Slivarvariant expressions, annotation, and filtering for great good.
MsprimeSimulate genealogical trees and genomic sequence data using population genetic models
GenomicsA collection of scripts and notes related to genomics and bioinformatics
SmudgeplotInference of ploidy and heterozygosity structure using whole genome sequencing data
AribaAntimicrobial Resistance Identification By Assembly
BioBioinformatics library for .NET
DkmDynamic Kernel Matching (DKM) for Classifying Data with Non-conforming Features