Illumina

Illumina Open Source Software

Pinned Repositories

canvas
Canvas - Copy number variant (CNV) calling from DNA sequencing data
Language:C#122 24 13420
DRAGMAP
DRAGEN open-source mapper
Language:C++164 19 5732
ExpansionHunter
A tool for estimating repeat sizes
Language:C++185 30 12051
hap.py
Haplotype VCF comparison tools
Language:C++422 41 175125
manta
Structural variant and indel caller for mapped sequencing data
Language:C++416 41 302153
Nirvana
The nimble & robust variant annotator
Language:C#173 35 12344
paragraph
Graph realignment tools for structural variants
Language:C++157 19 7428
pyflow
A lightweight parallel task engine
Language:Python146 31 2344
SpliceAI
A deep learning-based tool to identify splice variants
Language:Python412 21 139161
strelka
Strelka2 germline and somatic small variant caller
Language:C++361 28 240105

Illumina's Repositories

Illumina/hap.py
Haplotype VCF comparison tools
Language:C++422 41 175125
Illumina/manta
Structural variant and indel caller for mapped sequencing data
Language:C++416 41 302153
Illumina/SpliceAI
A deep learning-based tool to identify splice variants
Language:Python412 21 139161
Illumina/ExpansionHunter
A tool for estimating repeat sizes
Language:C++185 30 12051
Illumina/Nirvana
The nimble & robust variant annotator
Language:C#173 35 12344
Illumina/DRAGMAP
DRAGEN open-source mapper
Language:C++164 19 5732
Illumina/paragraph
Graph realignment tools for structural variants
Language:C++157 19 7428
Illumina/ExpansionHunterDenovo
A suite of tools for detecting expansions of short tandem repeats
Language:C++80 15 4825
Illumina/REViewer
A tool for visualizing alignments of reads in regions containing tandem repeats
Language:C++80 14 4912
Illumina/interop
C++ Library to parse Illumina InterOp files
Language:C++75 23 18026
Illumina/akt
Ancestry and Kinship Tools
Language:C++70 11 2213
Illumina/PrimateAI-3D
Language:Python62 16 510
Illumina/Cyrius
A tool to genotype CYP2D6 with WGS data
Language:Python49 12 365
Illumina/SMNCopyNumberCaller
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
Language:Python49 10 1113
Illumina/BeadArrayFiles
Python library to parse file formats related to Illumina bead arrays
Language:Python46 19 2234
Illumina/GTCtoVCF
Script to convert GTC/BPM files to VCF
Language:Python44 20 4631
Illumina/witty.er
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
Language:C#30 5 71
Illumina/Gauchian
A variant caller for the GBA gene using WGS data
Language:Python21 14 43
Illumina/zippy
The ZIPPY pipeline prototyping system
Language:Python5 6 23
Illumina/ica-sdk-python
Language:Python4 8 4
Illumina/NirvanaDocumentation
Language:MDX4 7 14
Illumina/dragen-azure-quickstart
Language:HTML3 7 1
Illumina/Pelops
Language:Python3 10 22
Illumina/dragen-aws-batch-quickstart
Language:HTML2 7 01
Illumina/licenses
2 7 280
Illumina/Bench-Example-Images
Language:Shell1
Illumina/minimap2
A versatile pairwise aligner for genomic and spliced nucleotide sequences
Language:C1 1 0
Illumina/IlluminaConnectedAnnotationsDocumentation
Language:MDX0 11 01
Illumina/IlluminaHumanMethylationEPICv2manifest
Language:R6 0
Illumina/IlluminaHumanMethylationMSAmanifest
Language:R6 01