HailScalable genomic data analysis.
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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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HtsjdkA Java API for high-throughput sequencing data (HTS) formats.
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PygenoPersonalized Genomics and Proteomics. Main diet: Ensembl, side dishes: SNPs
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FALDOFeature Annotation Location Description Ontology
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GenomicsA collection of scripts and notes related to genomics and bioinformatics
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indelopefind large indels (in the blind spot between GATK/freebayes and SV callers)
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cljamA DNA Sequence Alignment/Map (SAM) library for Clojure
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fucFrequently used commands in bioinformatics
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Tiledb VcfEfficient variant-call data storage and retrieval library using the TileDB storage library.
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Vcfannoannotate a VCF with other VCFs/BEDs/tabixed files
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CuteVCFsimple viewer for variant call format using htslib
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Hap.pyHaplotype VCF comparison tools
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Cyvcf2cython + htslib == fast VCF and BCF processing
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SvtyperBayesian genotyper for structural variants
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spark-vcfSpark VCF data source implementation for Dataframes
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simplesamSimple pure Python SAM parser and objects for working with SAM records
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dropClustVersion 2.1.0 released
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CASECyber-investigation Analysis Standard Expression (CASE) Ontology
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shiny-iatlasAn interactive web portal for exploring immuno-oncology data
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GenomicDataCommonsProvide R access to the NCI Genomic Data Commons portal.
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companionThis repository has been archived, currently maintained version is at https://github.com/iii-companion/companion
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enformer-pytorchImplementation of Enformer, Deepmind's attention network for predicting gene expression, in Pytorch
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unimapA EXPERIMENTAL fork of minimap2 optimized for assembly-to-reference alignment
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rare-disease-wf(WIP) best-practices workflow for rare disease
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ontologyGlobal Insurance Ontology
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SVCollectorMethod to optimally select samples for validation and resequencing
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OEPsOntology Enhancement Proposal
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plasmidtronAssembling the cause of phenotypes and genotypes from NGS data
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wdlRunRElastic, reproducible, and reusable genomic data science tools from R backed by cloud resources
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staramrScans genome contigs against the ResFinder, PlasmidFinder, and PointFinder databases.
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perfPERF is an Exhaustive Repeat Finder
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TypeTEGenotyping of segregating mobile elements insertions
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dysgudysgu-SV is a collection of tools for calling structural variants using short or long reads
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calN50Compute N50/NG50 and auN/auNG
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solr-ontology-taggerAutomatic tagging and analysis of documents in an Apache Solr index for faceted search by RDF(S) Ontologies & SKOS thesauri
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wgs2ncbiToolkit for preparing genomes for submission to NCBI
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catchA package for designing compact and comprehensive capture probe sets.
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Scaff10XPipeline for scaffolding and breaking a genome assembly using 10x genomics linked-reads
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faster lmm dA faster lmm for GWAS. Supports GPU backend.
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cloud-genomicsIntroduction to Cloud Computing for Genomics
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netSmoothnetSmooth: A Network smoothing based method for Single Cell RNA-seq imputation
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vcf2gwasPython API for comprehensive GWAS analysis using GEMMA
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kozaData transformation framework for LinkML data models
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jgi-queryA simple command-line tool to download data from Joint Genome Institute databases
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bio-pipelineMy collection of light bioinformatics analysis pipelines for specific tasks
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arcsvComplex structural variant detection from WGS data
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chanjoChanjo provides a better way to analyze coverage data in clinical sequencing.
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open-cravatA modular annotation tool for genomic variants
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mapcompGenetic Map Comparison
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ontology-eventbusThe Go Language Implementation of Ontology Actor Model
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barqueEnvironmental DNA metabarcoding taxonomic identification
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hts-pythonpythonic wrapper for htslib
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saffrontreeSaffronTree: Reference free rapid phylogenetic tree construction from raw read data
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interARTICInterARTIC - An interactive local web application for viral whole genome sequencing utilising the artic network pipelines..
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chromapFast alignment and preprocessing of chromatin profiles
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jannovarAnnotation of VCF variants with functional impact and from databases (executable+library)
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