Illumina

All

56 repositories

dragen-aws-batch-quickstart
Public
HTML
•
Apache License 2.0
•4•6•0•0•Updated Jul 30, 2025Jul 30, 2025
SpliceAI
Public
A deep learning-based tool to identify splice variants
Python
•
Other
•171•457•27•4•Updated Jul 18, 2025Jul 18, 2025
PromoterAI
Public
Python
•
Other
•12•72•0•0•Updated Jun 22, 2025Jun 22, 2025
IlluminaConnectedAnnotationsDocumentation
Public
MDX
•1•1•0•0•Updated Jun 17, 2025Jun 17, 2025
interop
Public
C++ Library to parse Illumina InterOp files
python csharp cpp python3 swig python27 python35 python36 illumina-sequencing python37
C++
•
GNU General Public License v3.0
•28•79•4•0•Updated Jun 14, 2025Jun 14, 2025
PrimateAI-3D
Public
Python
•
Other
•11•65•6•0•Updated Feb 25, 2025Feb 25, 2025
BeadArrayFiles
Public
Python library to parse file formats related to Illumina bead arrays
Python
•35•47•15•1•Updated Jan 30, 2025Jan 30, 2025
Bench-Example-Images
Public
Shell
•
Other
•0•4•0•0•Updated Sep 27, 2024Sep 27, 2024
dragen-azure-quickstart
Public
HTML
•0•3•1•0•Updated Sep 13, 2024Sep 13, 2024
GTCtoVCF
Public
Script to convert GTC/BPM files to VCF
Python
•
Apache License 2.0
•31•47•16•1•Updated Sep 5, 2024Sep 5, 2024
IlluminaHumanMethylationEPICv2manifest
Public
R
•0•0•1•0•Updated Aug 27, 2024Aug 27, 2024
IlluminaHumanMethylationMSAmanifest
Public
R
•2•1•0•0•Updated Aug 27, 2024Aug 27, 2024
Gauchian
Public
A variant caller for the GBA gene using WGS data
Python
•
Other
•4•22•2•0•Updated Jul 31, 2024Jul 31, 2024
Nirvana
Public
The nimble & robust variant annotator
C#
•
GNU General Public License v3.0
•47•184•39•5•Updated Apr 25, 2024Apr 25, 2024
NirvanaDocumentation
Public
MDX
•5•5•1•0•Updated Mar 4, 2024Mar 4, 2024
Pelops
Public archive
Python
•
Other
•2•3•2•0•Updated Feb 7, 2024Feb 7, 2024
ExpansionHunter
Public
A tool for estimating repeat sizes
C++
•
Other
•53•196•81•5•Updated Jan 30, 2024Jan 30, 2024
licenses
Public
77•2•2•0•Updated Jan 5, 2024Jan 5, 2024
REViewer
Public
A tool for visualizing alignments of reads in regions containing tandem repeats
C++
•
GNU General Public License v3.0
•14•86•33•0•Updated Dec 19, 2023Dec 19, 2023
ica-sdk-python
Public
Python
•
BSD 3-Clause "New" or "Revised" License
•0•5•5•0•Updated Dec 8, 2023Dec 8, 2023
hap.py
Public
Haplotype VCF comparison tools
bioinformatics genomics vcf-comparison vcf
C++
•
Other
•127•441•116•4•Updated Dec 7, 2023Dec 7, 2023
SMNCopyNumberCaller
Public
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
Python
•
Other
•13•50•6•1•Updated Oct 14, 2023Oct 14, 2023
Cyrius
Public
A tool to genotype CYP2D6 with WGS data
wgs pharmacogenomics cyp2d6
Python
•
Other
•6•53•10•0•Updated Oct 14, 2023Oct 14, 2023
witty.er
Public
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
benchmarking variants cnv copy-number-variation variant-analysis structural-variation
C#
•
Other
•1•33•4•0•Updated Sep 13, 2023Sep 13, 2023
DRAGMAP
Public
DRAGEN open-source mapper
C++
•
Other
•37•176•42•8•Updated Sep 8, 2023Sep 8, 2023
ExpansionHunterDenovo
Public
A suite of tools for detecting expansions of short tandem repeats
C++
•
Other
•26•82•38•2•Updated Jul 6, 2023Jul 6, 2023
minimap2
Public
A versatile pairwise aligner for genomic and spliced nucleotide sequences
C
•
Other
•440•1•0•0•Updated Jun 3, 2023Jun 3, 2023
manta
Public archive
Structural variant and indel caller for mapped sequencing data
bioinformatics structural-variations structural-variation indels
C++
•
GNU General Public License v3.0
•154•437•128•2•Updated Dec 21, 2022Dec 21, 2022
paragraph
Public
Graph realignment tools for structural variants
vcf variant-calling htslib structural-variation genotyping
C++
•
Other
•28•161•27•1•Updated Dec 8, 2022Dec 8, 2022
akt
Public
Ancestry and Kinship Tools
C++
•
GNU General Public License v3.0
•14•70•7•2•Updated Nov 16, 2022Nov 16, 2022