A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common DNA and RNA sequence analysis methods.
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Updated
Jul 31, 2024
A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common DNA and RNA sequence analysis methods.
Cancer Predisposition Sequencing Reporter (CPSR)
SNV calling from single cell sequencing
Clinical Whole Genome and Exome Sequencing Pipeline
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
Tool for automated classification of genetic variants according to ACMG criteria.
Snakemake-based workflow for detecting structural variants in genomic data
Geno-DeBasher package for detection of germline and somatic variants
Run Sentieon pipelines on Google Cloud Platform
A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample
Depository for Bioinformatics Master Project HT2022-VT2023
Super fast conversion of GVF file format to VCF file format
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Characterization of Germline variants
Sentieon DNAscope + Machine Learning Model
Screening deleterious germline variants (DGVs) in WCM UC cohort
CAYA Analysis
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
Snakemake workflow to call germline variant
Snakemake based workflow for analysis of dnaseq data for calling germline/somatic mutations
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