germline

There are 0 repository under germline topic.

dellytools / delly
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
structural-variation sv-discovery delly-users delly rearrangement genomic cancer-genomics germline tumor svs
Language:C++ 401
nf-core / sarek
Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing
nextflow workflow pipeline bioinformatics genomics cancer next-generation-sequencing conda reproducible-research containers germline somatic variant-calling nf-core gatk4 annotation whole-genome-sequencing whole-exome-sequencing pre-processing target-panels
Language:Nextflow 340
Sarek
SciLifeLab / Sarek
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
nextflow workflow pipeline bioinformatics genomics cancer next-generation-sequencing docker singularity reproducible-science reproducible-research containers germline germline-variants somatic somatic-variants
Language:Nextflow 132
sigven / gvanno
Generic human DNA variant annotation pipeline
docker gene vep vcfanno germline variant-annotations vcf snv indels annotation-framework annotation-tool workflow singularity snvs variants disease-gene-association
Language:Python 52
pughlab / VisCap
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.
copy-number-variation germline
Language:R 22
tobiasrausch / nRex
nRex: Germline and somatic single-nucleotide, short indel and structural variant calling
variant-calling sequencing alignment germline somatic-variants somatic-mutations mutations structural-variation
Language:Shell 11
pblaney / mgp1000
Nextflow bioinformatics pipeline for large-scale analysis of Multiple Myeloma genomes
bioinformatics cancer genomics germline nextflow pipeline preprocessing somatic variant-calling whole-genome-sequencing
Language:Nextflow 8
caravagnalab / TINC
Tumour-in-Normal Contamination assessment with evolutionary theory.
cancer genomics contamination evolution germline somatic-variants
Language:R 4
antigenomics / segment-parser
A parser for immune receptor gene data, mainly IMGT references
antibody gene germline imgt immunoglobulin receptor t-cell
Language:Groovy 3
AdamDS / 23AndMeAndClinVar
Cross-reference 23andMe raw variant file with ClinVar
23andme clinvar genetics germline snp
Language:Perl 2
CenterForMedicalGeneticsGhent / nf-cmgg-germline
A nextflow pipeline for calling and annotating variants
annotation cram genotyping germline germline-variant-calling ngs ngs-pipeline short-reads
Language:Nextflow 2
blazerroadg / react-native-azure-cosmos-gremlin
This package provide rest api for azure cosmos germlin graph data base query access
azure azure-cosmos azure-cosmos-db germline react react-native reactjs
Language:C# 0
EngLabGMI / germline_caya_solidtumor_analysis
CAYA Analysis
genomics maftools ngs-analysis germline-variants germline cancer-research oncology jupyter-notebook cancer-genomics
Language:Jupyter Notebook 0
MBeyens / pyAmpli
pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data
variant-filtration ngstools somatic-variants germline amplicons targeted-sequencing haloplex mips ngs genomics bioinformatics variants
Language:Python 0
rosaak / germline_caya_solidtumor_analysis
CAYA Analysis
germline-variants germline cancer-genomics jupyter-notebook oncology childhood cancer-research
Language:Jupyter Notebook 0
Sydney-Informatics-Hub / GermlineShortV_biovalidation
Workflow for biological validation of germline SNP and indel variant datasets.
germline indel snp validation variant-analysis variant-calling wgs wholegenomesequencing
Language:Shell