GenomicsA collection of scripts and notes related to genomics and bioinformatics
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HifiasmHifiasm: a haplotype-resolved assembler for accurate Hifi reads
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CoolerA cool place to store your Hi-C
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BluegenesA friendly next-generation interface for Genomic data discovery powered by InterMine
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BiomartrGenomic Data Retrieval with R
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Deep RulesTen Quick Tips for Deep Learning in Biology
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SibeliazA fast whole-genome aligner based on de Bruijn graphs
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Benchmarking ToolsRepository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
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NglessNGLess: NGS with less work
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GenozipCompressor for genomic files (FASTQ, SAM/BAM, VCF, FASTA, GVF, 23andMe...), up to 5x better than gzip and faster too
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VcfrTools to work with variant call format files
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Slivarvariant expressions, annotation, and filtering for great good.
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IdeogramChromosome visualization for the web
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AribaAntimicrobial Resistance Identification By Assembly
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HgvsPython library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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IntermineA powerful open source data warehouse system
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ScoaryPan-genome wide association studies
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Hts Nimnim wrapper for htslib for parsing genomics data files
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BgtFlexible genotype query among 30,000+ samples whole-genome
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RoaryRapid large-scale prokaryote pan genome analysis
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Dna NnModel and predict short DNA sequence features with neural networks
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SarekDetect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
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HicexplorerHiCExplorer is a powerful and easy to use set of tools to process, normalize and visualize Hi-C data.
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AioliFramework for building fast genomics web tools with WebAssembly and WebWorkers
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Viral NgsViral genomics analysis pipelines
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QqmanAn R package for creating Q-Q and manhattan plots from GWAS results
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RibbonA genome browser that shows long reads and complex variants better
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CgrangesA C/C++ library for fast interval overlap queries (with a "bedtools coverage" example)
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Smoovestructural variant calling and genotyping with existing tools, but, smoothly.
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MsprimeSimulate genealogical trees and genomic sequence data using population genetic models
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SequenceserverIntuitive local web frontend for the BLAST bioinformatics tool
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SmudgeplotInference of ploidy and heterozygosity structure using whole genome sequencing data
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Janggu Deep learning infrastructure for bioinformatics
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BioBioinformatics library for .NET
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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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DkmDynamic Kernel Matching (DKM) for Classifying Data with Non-conforming Features
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MinigraphProof-of-concept seq-to-graph mapper and graph generator
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Awesome 10x GenomicsList of tools and resources related to the 10x Genomics GEMCode/Chromium system
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OctopusBayesian haplotype-based mutation calling
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SvtyperBayesian genotyper for structural variants
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WgsimReads simulator
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Fastq.bioAn interactive web tool for quality control of DNA sequencing data
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Miso LimsMISO: An open-source LIMS for NGS sequencing centres
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GubbinsRapid phylogenetic analysis of large samples of recombinant bacterial whole genome sequences using Gubbins
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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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Deep ReviewA collaboratively written review paper on deep learning, genomics, and precision medicine
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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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MixomicsDevelopment repository for the Bioconductor package 'mixOmics '
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Goleftgoleft is a collection of bioinformatics tools distributed under MIT license in a single static binary
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Kmer CntCode examples of fast and simple k-mer counters for tutorial purposes
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FlowcraftFlowCraft: a component-based pipeline composer for omics analysis using Nextflow. 🐳📦
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JuicerA One-Click System for Analyzing Loop-Resolution Hi-C Experiments
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GenometoolsGenomeTools genome analysis system.
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GlowAn open-source toolkit for large-scale genomic analysis
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CirclatorA tool to circularize genome assemblies
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