Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.
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Updated
Jan 23, 2019 - Nextflow
Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.
CAYA Analysis
Snakemake based workflow for analysis of dnaseq data for calling germline/somatic mutations
Snakemake workflow to call germline variant
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
CAYA Analysis
Screening deleterious germline variants (DGVs) in WCM UC cohort
Sentieon DNAscope + Machine Learning Model
Characterization of Germline variants
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Super fast conversion of GVF file format to VCF file format
Depository for Bioinformatics Master Project HT2022-VT2023
A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample
Run Sentieon pipelines on Google Cloud Platform
Geno-DeBasher package for detection of germline and somatic variants
Snakemake-based workflow for detecting structural variants in genomic data
Tool for automated classification of genetic variants according to ACMG criteria.
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.
Cancer Predisposition Sequencing Reporter (CPSR)
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