20 open source projects by Illumina

Haplotype VCF comparison tools

Strelka2 germline and somatic small variant caller

A deep learning-based tool to identify splice variants

A lightweight parallel task engine

Canvas - Copy number variant (CNV) calling from DNA sequencing data

The nimble & robust variant annotator

Graph realignment tools for structural variants

A tool for estimating repeat sizes

Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.

deep residual neural network for classifying the pathogenicity of missense mutations.

Script to convert GTC/BPM files to VCF

A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

Structural variant and indel caller for mapped sequencing data

A utility for merging and genotyping Illumina-style GVCFs.

A tool for visualizing alignments of reads in regions containing tandem repeats

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

The Platinum Genomes Truthset

DRAGEN open-source mapper

API libraries, application examples, and custom tools for BaseSpace Clarity LIMS

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