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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GenometoolsGenomeTools genome analysis system.
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GenomeAnalysisModuleWelcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees in the UBC MSc Genetic Counselling Training Program, as they embark on a journey to learn about analyzing genomes.
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Scaff10XPipeline for scaffolding and breaking a genome assembly using 10x genomics linked-reads
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GatkOfficial code repository for GATK versions 4 and up
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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companionThis repository has been archived, currently maintained version is at https://github.com/iii-companion/companion
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PygenoPersonalized Genomics and Proteomics. Main diet: Ensembl, side dishes: SNPs
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HgvsPython library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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NucleusPython and C++ code for reading and writing genomics data.
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OctopusBayesian haplotype-based mutation calling
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Bwa Mem2The next version of bwa-mem
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HifiasmHifiasm: a haplotype-resolved assembler for accurate Hifi reads
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DeeptoolsTools to process and analyze deep sequencing data.
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16gtSimultaneous detection of SNPs and Indels using a 16-genotype probabilistic model
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Metacachememory efficient, fast & precise taxnomomic classification system for metagenomic read mapping
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SnsAnalysis pipelines for sequencing data
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HailScalable genomic data analysis.
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Minimap2A versatile pairwise aligner for genomic and spliced nucleotide sequences
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DramDistilled and Refined Annotation of Metabolism: A tool for the annotation and curation of function for microbial and viral genomes
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Goleftgoleft is a collection of bioinformatics tools distributed under MIT license in a single static binary
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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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Fastq.bioAn interactive web tool for quality control of DNA sequencing data
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SarekDetect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
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BiomartrGenomic Data Retrieval with R
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JcviPython library to facilitate genome assembly, annotation, and comparative genomics
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Biojava📖🔬☕️ BioJava is an open-source project dedicated to providing a Java library for processing biological data.
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JbrowseA modern genome browser built with JavaScript and HTML5.
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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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RoaryRapid large-scale prokaryote pan genome analysis
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Bowtie2A fast and sensitive gapped read aligner
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Tiledb VcfEfficient variant-call data storage and retrieval library using the TileDB storage library.
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Hts Nimnim wrapper for htslib for parsing genomics data files
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GalaxyData intensive science for everyone.
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BwaBurrow-Wheeler Aligner for short-read alignment (see minimap2 for long-read alignment)
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Dna NnModel and predict short DNA sequence features with neural networks
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MegahitUltra-fast and memory-efficient (meta-)genome assembler
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Viral NgsViral genomics analysis pipelines
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Soapdenovo2Next generation sequencing reads de novo assembler.
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BgtFlexible genotype query among 30,000+ samples whole-genome
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Awesome 10x GenomicsList of tools and resources related to the 10x Genomics GEMCode/Chromium system
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SvtyperBayesian genotyper for structural variants
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Arcs🌈Scaffold genome sequence assemblies using linked read sequencing data
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Kmer CntCode examples of fast and simple k-mer counters for tutorial purposes
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SibeliazA fast whole-genome aligner based on de Bruijn graphs
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BioBioinformatics library for .NET
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Deep RulesTen Quick Tips for Deep Learning in Biology
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CirclatorA tool to circularize genome assemblies
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SmudgeplotInference of ploidy and heterozygosity structure using whole genome sequencing data
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GenomicsA collection of scripts and notes related to genomics and bioinformatics
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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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AribaAntimicrobial Resistance Identification By Assembly
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CgrangesA C/C++ library for fast interval overlap queries (with a "bedtools coverage" example)
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CoolerA cool place to store your Hi-C
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