Ecosyste.ms: Repos
An open API service providing repository metadata for many open source software ecosystems.
GitHub topics: germline-variants
OpenOmics/genome-seek
Clinical Whole Genome and Exome Sequencing Pipeline
Language: Python - Size: 919 KB - Last synced: 2 days ago - Pushed: 2 days ago - Stars: 16 - Forks: 7
KChen-lab/Monopogen
SNV calling from single cell sequencing
Language: Python - Size: 96.1 MB - Last synced: about 1 month ago - Pushed: about 1 month ago - Stars: 58 - Forks: 13
ding-lab/germline_variant_snakemake
Snakemake workflow to call germline variant
Language: Python - Size: 4.78 MB - Last synced: about 1 month ago - Pushed: over 4 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: about 2 months ago - Pushed: about 1 year ago - Stars: 1 - Forks: 0
clbenoit/GermlineVarDB
R package containing a R Shiny app for germline genomic variants interpretation, and a tool suite to deal with an underlying local structured database.
Language: R - Size: 36.7 MB - Last synced: 11 days ago - Pushed: 11 days ago - Stars: 0 - Forks: 0
Sydney-Informatics-Hub/Bioinformatics
A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common DNA and RNA sequence analysis methods.
Size: 137 KB - Last synced: 24 days ago - Pushed: about 2 months ago - Stars: 11 - Forks: 0
ding-lab/CharGer
Characterization of Germline variants
Language: Python - Size: 16.8 MB - Last synced: 14 days ago - Pushed: about 2 years ago - Stars: 92 - Forks: 37
TheSergeyPixel/Diablo_ACMG
Tool for automated classification of genetic variants according to ACMG criteria.
Language: Python - Size: 87.7 MB - Last synced: 2 months ago - Pushed: 2 months ago - Stars: 0 - Forks: 0
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: 16 days ago - Pushed: over 4 years ago - Stars: 132 - Forks: 7
daormar/geno-debasher
Geno-DeBasher package for detection of germline and somatic variants
Language: Shell - Size: 3.36 MB - Last synced: 4 months ago - Pushed: 4 months ago - Stars: 5 - Forks: 1
GooglingTheCancerGenome/sv-callers
Snakemake-based workflow for detecting structural variants in genomic data
Language: Python - Size: 210 MB - Last synced: 3 months ago - Pushed: 3 months ago - Stars: 69 - Forks: 26
Sentieon/sentieon-dnascope-ml
Sentieon DNAscope + Machine Learning Model
Language: Shell - Size: 111 KB - Last synced: 7 months ago - Pushed: over 2 years ago - Stars: 9 - Forks: 3
eipm/dgvar
Screening deleterious germline variants (DGVs) in WCM UC cohort
Language: Python - Size: 2.89 MB - Last synced: 7 months ago - Pushed: over 3 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: 7 months ago - Pushed: about 1 year 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: 7 months ago - Pushed: over 4 years ago - Stars: 0 - Forks: 2
Sentieon/sentieon-google-genomics
Run Sentieon pipelines on Google Cloud Platform
Language: Shell - Size: 126 KB - Last synced: 7 months ago - Pushed: 9 months ago - Stars: 5 - Forks: 7
sigven/cpsr
Cancer Predisposition Sequencing Reporter (CPSR)
Language: R - Size: 18.8 MB - Last synced: about 1 month ago - Pushed: about 1 month ago - Stars: 52 - Forks: 12
rosaak/germline_caya_solidtumor_analysis
CAYA Analysis
Language: Jupyter Notebook - Size: 24.2 MB - Last synced: 9 months ago - Pushed: over 4 years ago - Stars: 0 - Forks: 1
Test-Blu/GVF2VCF_Convertor_TestBlu
Super fast conversion of GVF file format to VCF file format
Language: Python - Size: 62.9 MB - Last synced: 10 months ago - Pushed: about 1 year ago - Stars: 2 - Forks: 0
vsubasri/LFS-Germline
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Language: R - Size: 16 MB - Last synced: about 1 year ago - Pushed: almost 2 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: about 1 year ago - Pushed: over 2 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: 6 months ago - Pushed: over 5 years ago - Stars: 0 - Forks: 2
