Characterization of Germline variants
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Updated
Mar 15, 2022 - Python
Characterization of Germline variants
Snakemake-based workflow for detecting structural variants in genomic data
SNV calling from single cell sequencing
Cancer Predisposition Sequencing Reporter (CPSR)
Run Sentieon pipelines on Google Cloud Platform
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
Clinical Whole Genome and Exome Sequencing Pipeline
A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample
Sentieon DNAscope + Machine Learning Model
Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.
Snakemake based workflow for analysis of dnaseq data for calling germline/somatic mutations
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Geno-DeBasher package for detection of germline and somatic variants
CAYA Analysis
Tool for automated classification of genetic variants according to ACMG criteria.
Screening deleterious germline variants (DGVs) in WCM UC cohort
Snakemake workflow to call germline variant
CAYA Analysis
A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common DNA and RNA sequence analysis methods.
R package containing a R Shiny app for germline genomic variants interpretation, and a tool suite to deal with an underlying local structured database.
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