DeepvariantDeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
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Scaff10XPipeline for scaffolding and breaking a genome assembly using 10x genomics linked-reads
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PygenoPersonalized Genomics and Proteomics. Main diet: Ensembl, side dishes: SNPs
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GenometoolsGenomeTools genome analysis system.
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RibbonA genome browser that shows long reads and complex variants better
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catchA package for designing compact and comprehensive capture probe sets.
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companionThis repository has been archived, currently maintained version is at https://github.com/iii-companion/companion
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GatkOfficial code repository for GATK versions 4 and up
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dna-traitsA fast 23andMe genome text file parser, now superseded by arv
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Janggu Deep learning infrastructure for bioinformatics
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bacnetBACNET is a Java based platform to develop website for multi-omics analysis
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HgvsPython library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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Deep RulesTen Quick Tips for Deep Learning in Biology
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Goleftgoleft is a collection of bioinformatics tools distributed under MIT license in a single static binary
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MinigraphProof-of-concept seq-to-graph mapper and graph generator
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SequenceserverIntuitive local web frontend for the BLAST bioinformatics tool
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MiniasmUltrafast de novo assembly for long noisy reads (though having no consensus step)
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tiptoftPredict plasmids from uncorrected long read data
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CanvasxpressJavaScript VisualizationTools
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Abyss🔬 Assemble large genomes using short reads
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BiopythonOfficial git repository for Biopython (originally converted from CVS)
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Hap.pyHaplotype VCF comparison tools
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wgs2ncbiToolkit for preparing genomes for submission to NCBI
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unimapA EXPERIMENTAL fork of minimap2 optimized for assembly-to-reference alignment
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perfPERF is an Exhaustive Repeat Finder
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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
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HifiasmHifiasm: a haplotype-resolved assembler for accurate Hifi reads
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Soapdenovo2Next generation sequencing reads de novo assembler.
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OctopusBayesian haplotype-based mutation calling
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WgsimReads simulator
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RoaryRapid large-scale prokaryote pan genome analysis
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saffrontreeSaffronTree: Reference free rapid phylogenetic tree construction from raw read data
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Hts Nimnim wrapper for htslib for parsing genomics data files
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IntermineA powerful open source data warehouse system
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variantkeyNumerical Encoding for Human Genetic Variants
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wdlRunRElastic, reproducible, and reusable genomic data science tools from R backed by cloud resources
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calN50Compute N50/NG50 and auN/auNG
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Bedops🔬 BEDOPS: high-performance genomic feature operations
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KaryoploterkaryoploteR - An R/Bioconductor package to plot arbitrary data along the genome
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Cyvcf2cython + htslib == fast VCF and BCF processing
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BowtieAn ultrafast memory-efficient short read aligner
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faster lmm dA faster lmm for GWAS. Supports GPU backend.
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dysgudysgu-SV is a collection of tools for calling structural variants using short or long reads
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jgi-queryA simple command-line tool to download data from Joint Genome Institute databases
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ntHashFast hash function for DNA sequences
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simplesamSimple pure Python SAM parser and objects for working with SAM records
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GenomicDataCommonsProvide R access to the NCI Genomic Data Commons portal.
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plasmidtronAssembling the cause of phenotypes and genotypes from NGS data
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chromapFast alignment and preprocessing of chromatin profiles
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awesome-geneticsA curated list of awesome bioinformatics software.
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reg-genRegulatory Genomics Toolbox: Python library and set of tools for the integrative analysis of high throughput regulatory genomics data.
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bystroBystro genetic analysis (annotation, filtering, statistics)
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netSmoothnetSmooth: A Network smoothing based method for Single Cell RNA-seq imputation
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SarekDetect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
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Somalierfast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"
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MGSEMapping-based Genome Size Estimation (MGSE) performs an estimation of a genome size based on a read mapping to an existing genome sequence assembly.
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staramrScans genome contigs against the ResFinder, PlasmidFinder, and PointFinder databases.
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