DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
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Updated
Dec 6, 2024 - C++
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
Generic human DNA variant annotation pipeline
VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data. For algorithmic details, see Pugh TJ et al. Genet Med. 2016 Jul;18(7):712-9.
nRex: Germline and somatic single-nucleotide, short indel and structural variant calling
Nextflow bioinformatics pipeline for large-scale analysis of Multiple Myeloma genomes
A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data
Tumour-in-Normal Contamination assessment with evolutionary theory.
pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data
CAYA Analysis
Workflow for biological validation of germline SNP and indel variant datasets.
CAYA Analysis
This package provide rest api for azure cosmos germlin graph data base query access
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