Projects in Awesome Lists by Illumina
A curated list of projects in awesome lists by Illumina .
https://github.com/illumina/spliceai
A deep learning-based tool to identify splice variants
Last synced: 16 May 2025
https://github.com/illumina/hap.py
Haplotype VCF comparison tools
bioinformatics genomics vcf vcf-comparison
Last synced: 04 Apr 2025
https://github.com/Illumina/manta
Structural variant and indel caller for mapped sequencing data
bioinformatics indels structural-variation structural-variations
Last synced: 19 Apr 2025
https://github.com/Illumina/SpliceAI
A deep learning-based tool to identify splice variants
Last synced: 19 Apr 2025
https://github.com/Illumina/strelka
Strelka2 germline and somatic small variant caller
bioinformatics indels snps snvs
Last synced: 19 Apr 2025
https://github.com/illumina/strelka
Strelka2 germline and somatic small variant caller
bioinformatics indels snps snvs
Last synced: 05 Apr 2025
https://github.com/illumina/expansionhunter
A tool for estimating repeat sizes
Last synced: 08 Apr 2025
https://github.com/illumina/pyflow
A lightweight parallel task engine
task-runner workflow workflow-engine
Last synced: 20 Dec 2024
https://github.com/Illumina/paragraph
Graph realignment tools for structural variants
genotyping htslib structural-variation variant-calling vcf
Last synced: 10 May 2025
https://github.com/illumina/paragraph
Graph realignment tools for structural variants
genotyping htslib structural-variation variant-calling vcf
Last synced: 10 Apr 2025
https://github.com/illumina/primateai
deep residual neural network for classifying the pathogenicity of missense mutations.
Last synced: 10 Apr 2025
https://github.com/illumina/pisces
Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
Last synced: 10 Apr 2025
https://github.com/illumina/reviewer
A tool for visualizing alignments of reads in regions containing tandem repeats
Last synced: 10 Apr 2025
https://github.com/illumina/expansionhunterdenovo
A suite of tools for detecting expansions of short tandem repeats
Last synced: 10 Apr 2025
https://github.com/illumina/interop
C++ Library to parse Illumina InterOp files
cpp csharp illumina-sequencing interop python python-3-8 python-3-9 python27 python3 python35 python36 python37 swig
Last synced: 09 Apr 2025
https://github.com/illumina/polaris
Data and information about the Polaris study
Last synced: 18 Mar 2025
https://github.com/illumina/smncopynumbercaller
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
Last synced: 10 Apr 2025
https://github.com/illumina/beadarrayfiles
Python library to parse file formats related to Illumina bead arrays
Last synced: 07 Apr 2025
https://github.com/illumina/gtctovcf
Script to convert GTC/BPM files to VCF
Last synced: 16 Mar 2025
https://github.com/illumina/gvcfgenotyper
A utility for merging and genotyping Illumina-style GVCFs.
Last synced: 10 Apr 2025
https://github.com/illumina/witty.er
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
benchmarking cnv copy-number-variation structural-variation variant-analysis variants
Last synced: 10 Apr 2025
https://github.com/illumina/gauchian
A variant caller for the GBA gene using WGS data
Last synced: 10 Apr 2025
https://github.com/illumina/basespace_clarity_lims
API libraries, application examples, and custom tools for BaseSpace Clarity LIMS
Last synced: 10 Apr 2025
https://github.com/illumina/happyr
R tools to interact with hap.py output
bioinformatics r variant-analysis vcf-comparison
Last synced: 10 Apr 2025
https://github.com/illumina/zippy
The ZIPPY pipeline prototyping system
bioinformatics pipeline python workflow
Last synced: 10 Apr 2025
https://github.com/illumina/neomutalyzer
Inspired by Mutalyzer and frustrated by RefSeq, we created this transcript annotation validator
Last synced: 18 Mar 2025
https://github.com/illumina/novaseq-lims-api
Documentation and tools for users of the NovaSeq LIMS API
Last synced: 10 Apr 2025
https://github.com/illumina/blockcompression
Block compression library used by Nirvana
Last synced: 18 Mar 2025
https://github.com/illumina/bammetrics
Efficient and accurate metrics from aligned reads - mismatch rate, percent proper pairs, etc.
Last synced: 18 Mar 2025
https://github.com/illumina/gffcreator
Creates GFF files from Nirvana cache files
Last synced: 18 Mar 2025
https://github.com/illumina/slimcache
Nirvana tool that creates RefSeq- or Ensembl-specific cache files
Last synced: 18 Mar 2025
https://github.com/illumina/cacheutils
Creates new Nirvana gene & transcript cache files
Last synced: 18 Mar 2025