Illumina

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55 repositories

IlluminaConnectedAnnotationsDocumentation
Public
MDX
•1•0•0•1•Updated Dec 5, 2024Dec 5, 2024
Bench-Example-Images
Public
Shell
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Other
•0•0•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
PrimateAI-3D
Public
Python
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Other
•11•62•6•0•Updated Jul 18, 2024Jul 18, 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•3•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•173•38•5•Updated Apr 25, 2024Apr 25, 2024
SpliceAI
Public
A deep learning-based tool to identify splice variants
Python
•
Other
•161•412•17•3•Updated Mar 19, 2024Mar 19, 2024
BeadArrayFiles
Public
Python library to parse file formats related to Illumina bead arrays
Python
•34•46•14•1•Updated Mar 15, 2024Mar 15, 2024
NirvanaDocumentation
Public
MDX
•4•4•1•0•Updated Mar 4, 2024Mar 4, 2024
Pelops
Public archive
Python
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Other
•2•3•2•0•Updated Feb 7, 2024Feb 7, 2024
ExpansionHunter
Public
A tool for estimating repeat sizes
C++
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Other
•51•185•74•5•Updated Jan 30, 2024Jan 30, 2024
licenses
Public
80•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
•12•80•30•0•Updated Dec 19, 2023Dec 19, 2023
ica-sdk-python
Public
Python
•
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
•125•422•109•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•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•49•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•30•0•0•Updated Sep 13, 2023Sep 13, 2023
DRAGMAP
Public
DRAGEN open-source mapper
C++
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Other
•32•164•42•7•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
•25•80•36•2•Updated Jul 6, 2023Jul 6, 2023
minimap2
Public
A versatile pairwise aligner for genomic and spliced nucleotide sequences
C
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Other
•423•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++
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GNU General Public License v3.0
•153•416•128•3•Updated Dec 21, 2022Dec 21, 2022
paragraph
Public
Graph realignment tools for structural variants
vcf variant-calling htslib structural-variation genotyping
C++
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Other
•28•156•25•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