Illumina

Sources

48 repositories

IlluminaConnectedAnnotationsDocumentation
Public
MDX
•1•1•0•0•Updated Feb 25, 2025Feb 25, 2025
PrimateAI-3D
Public
Python
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Other
•10•65•6•0•Updated Feb 25, 2025Feb 25, 2025
BeadArrayFiles
Public
Python library to parse file formats related to Illumina bead arrays
Python
•34•45•14•1•Updated Jan 30, 2025Jan 30, 2025
Bench-Example-Images
Public
Shell
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Other
•0•4•0•0•Updated Sep 27, 2024Sep 27, 2024
dragen-aws-batch-quickstart
Public
HTML
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Apache License 2.0
•1•2•0•0•Updated Sep 25, 2024Sep 25, 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
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Apache License 2.0
•31•44•15•1•Updated Sep 5, 2024Sep 5, 2024
IlluminaHumanMethylationEPICv2manifest
Public
R
•0•0•0•0•Updated Aug 27, 2024Aug 27, 2024
IlluminaHumanMethylationMSAmanifest
Public
R
•1•0•0•0•Updated Aug 27, 2024Aug 27, 2024
Gauchian
Public
A variant caller for the GBA gene using WGS data
Python
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Other
•3•21•2•0•Updated Jul 31, 2024Jul 31, 2024
interop
Public
C++ Library to parse Illumina InterOp files
python csharp cpp python3 swig python27 python35 python36 illumina-sequencing python37
C++
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GNU General Public License v3.0
•26•75•5•0•Updated Jul 15, 2024Jul 15, 2024
Nirvana
Public
The nimble & robust variant annotator
C#
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GNU General Public License v3.0
•44•176•38•5•Updated Apr 25, 2024Apr 25, 2024
SpliceAI
Public
A deep learning-based tool to identify splice variants
Python
•
Other
•163•426•22•3•Updated Mar 19, 2024Mar 19, 2024
NirvanaDocumentation
Public
MDX
•4•5•1•0•Updated Mar 4, 2024Mar 4, 2024
ExpansionHunter
Public
A tool for estimating repeat sizes
C++
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Other
•52•189•74•5•Updated Jan 30, 2024Jan 30, 2024
licenses
Public
78•2•2•0•Updated Jan 5, 2024Jan 5, 2024
REViewer
Public
A tool for visualizing alignments of reads in regions containing tandem repeats
C++
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GNU General Public License v3.0
•12•83•29•0•Updated Dec 19, 2023Dec 19, 2023
ica-sdk-python
Public
Python
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BSD 3-Clause "New" or "Revised" License
•0•4•3•0•Updated Dec 8, 2023Dec 8, 2023
hap.py
Public
Haplotype VCF comparison tools
bioinformatics genomics vcf-comparison vcf
C++
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Other
•124•423•113•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
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Other
•13•49•6•1•Updated Oct 14, 2023Oct 14, 2023
Cyrius
Public
A tool to genotype CYP2D6 with WGS data
wgs pharmacogenomics cyp2d6
Python
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Other
•5•51•9•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#
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Other
•1•32•1•0•Updated Sep 13, 2023Sep 13, 2023
DRAGMAP
Public
DRAGEN open-source mapper
C++
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Other
•36•169•42•9•Updated Sep 8, 2023Sep 8, 2023
ExpansionHunterDenovo
Public
A suite of tools for detecting expansions of short tandem repeats
C++
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Other
•26•80•37•2•Updated Jul 6, 2023Jul 6, 2023
paragraph
Public
Graph realignment tools for structural variants
vcf variant-calling htslib structural-variation genotyping
C++
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Other
•28•156•26•1•Updated Dec 8, 2022Dec 8, 2022
akt
Public
Ancestry and Kinship Tools
C++
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GNU General Public License v3.0
•13•70•8•2•Updated Nov 16, 2022Nov 16, 2022
zippy
Public
The ZIPPY pipeline prototyping system
python workflow bioinformatics pipeline
Python
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Apache License 2.0
•3•5•1•0•Updated Oct 11, 2022Oct 11, 2022
BlockCompression
Public
Block compression library used by Nirvana
C++
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GNU General Public License v3.0
•1•2•0•0•Updated Sep 27, 2022Sep 27, 2022
Pisces
Public
Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
C#
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GNU General Public License v3.0
•16•96•55•2•Updated Jun 22, 2022Jun 22, 2022
NeoMutalyzer
Public
Inspired by Mutalyzer and frustrated by RefSeq, we created this transcript annotation validator
C#
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GNU General Public License v3.0
•0•3•0•0•Updated May 25, 2022May 25, 2022