GitHub topics: germline-variants
Sentieon/sentieon-google-genomics
Run Sentieon pipelines on Google Cloud Platform
Language: Shell - Size: 127 KB - Last synced at: 29 days ago - Pushed at: 29 days ago - Stars: 6 - Forks: 7
Sentieon/sentieon-dnascope-ml
Sentieon DNAscope + Machine Learning Model
Language: Shell - Size: 111 KB - Last synced at: about 2 months ago - Pushed at: about 2 months ago - Stars: 12 - Forks: 4
Sydney-Informatics-Hub/Bioinformatics
A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common methods.
Size: 173 KB - Last synced at: about 2 months ago - Pushed at: 2 months ago - Stars: 17 - Forks: 1
GooglingTheCancerGenome/sv-callers
Snakemake-based workflow for detecting structural variants in genomic data
Language: Python - Size: 210 MB - Last synced at: 28 days ago - Pushed at: 3 months ago - Stars: 80 - Forks: 35
ding-lab/CharGer
Characterization of Germline variants
Language: Python - Size: 16.8 MB - Last synced at: 27 days ago - Pushed at: about 3 years ago - Stars: 98 - Forks: 37
OpenOmics/genome-seek
Clinical Whole Genome and Exome Sequencing Pipeline
Language: Python - Size: 849 KB - Last synced at: 7 months ago - Pushed at: 7 months ago - Stars: 18 - Forks: 11
SciLifeLab/Sarek Fork of nf-core/sarek 📦
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
Language: Nextflow - Size: 43.8 MB - Last synced at: about 2 months ago - Pushed at: over 5 years ago - Stars: 133 - Forks: 7
TheSergeyPixel/Diablo_ACMG
Tool for automated classification of genetic variants according to ACMG criteria.
Language: Python - Size: 87.7 MB - Last synced at: 8 months ago - Pushed at: 8 months ago - Stars: 4 - Forks: 1
clbenoit/GermlineVarDB
R Shiny app for germline genomic variants interpretation. The tool suite to deal with the underlying local structured database is provided here : https://github.com/clbenoit/GermlineVarDBTools
Language: R - Size: 36.8 MB - Last synced at: 8 months ago - Pushed at: 8 months ago - Stars: 0 - Forks: 0
sigven/cpsr
Cancer Predisposition Sequencing Reporter (CPSR)
Language: R - Size: 15.3 MB - Last synced at: 12 months ago - Pushed at: 12 months ago - Stars: 53 - Forks: 12
KChen-lab/Monopogen
SNV calling from single cell sequencing
Language: Python - Size: 96.1 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 58 - Forks: 13
ding-lab/germline_variant_snakemake
Snakemake workflow to call germline variant
Language: Python - Size: 4.78 MB - Last synced at: about 1 year ago - Pushed at: over 5 years ago - Stars: 5 - Forks: 0
TheOrangeBraincell/variants_in_AS_Pipeline
Depository for Bioinformatics Master Project HT2022-VT2023
Language: Python - Size: 943 KB - Last synced at: about 1 year ago - Pushed at: about 2 years ago - Stars: 1 - Forks: 0
daormar/geno-debasher
Geno-DeBasher package for detection of germline and somatic variants
Language: Shell - Size: 3.36 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 5 - Forks: 1
eipm/dgvar
Screening deleterious germline variants (DGVs) in WCM UC cohort
Language: Python - Size: 2.89 MB - Last synced at: over 1 year ago - Pushed at: over 4 years ago - Stars: 5 - Forks: 1
biowdl/germline-DNA
A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample
Language: wdl - Size: 8.93 MB - Last synced at: over 1 year ago - Pushed at: about 2 years ago - Stars: 22 - Forks: 7
pd321/dnaseq
Snakemake based workflow for analysis of dnaseq data for calling germline/somatic mutations
Language: Python - Size: 13 MB - Last synced at: over 1 year ago - Pushed at: over 5 years ago - Stars: 0 - Forks: 2
Test-Blu/GVF2VCF_Convertor_TestBlu
Super fast conversion of GVF file format to VCF file format
Language: Python - Size: 62.9 MB - Last synced at: 5 months ago - Pushed at: about 2 years ago - Stars: 1 - Forks: 1
rosaak/germline_caya_solidtumor_analysis
CAYA Analysis
Language: Jupyter Notebook - Size: 24.2 MB - Last synced at: almost 2 years ago - Pushed at: over 5 years ago - Stars: 0 - Forks: 1
vsubasri/LFS-Germline
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Language: R - Size: 16 MB - Last synced at: about 2 years ago - Pushed at: almost 3 years ago - Stars: 1 - Forks: 1
CCBR/CCBR_GATK4_Exome_Seq_Pipeline Fork of mtandon09/CCBR_GATK4_Exome_Seq_Pipeline
Containerized GATK4 Whole Exome-sequencing Pipeline
Language: Python - Size: 10.2 MB - Last synced at: about 2 years ago - Pushed at: over 3 years ago - Stars: 1 - Forks: 0
jongtaek-kim/Bioinformatics-Pipeline-from-Sarek Fork of nf-core/sarek
Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.
Language: Nextflow - Size: 44.2 MB - Last synced at: over 1 year ago - Pushed at: over 6 years ago - Stars: 0 - Forks: 2
