Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing

Characterization of Germline variants

SNV calling from single cell sequencing

Snakemake-based workflow for detecting structural variants in genomic data

Cancer Predisposition Sequencing Reporter (CPSR)

A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample

Clinical Whole Genome and Exome Sequencing Pipeline

A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common methods.

Sentieon DNAscope + Machine Learning Model

Run Sentieon pipelines on Google Cloud Platform

Snakemake workflow to call germline variant

Geno-DeBasher package for detection of germline and somatic variants

Screening deleterious germline variants (DGVs) in WCM UC cohort

Tool for automated classification of genetic variants according to ACMG criteria.

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

CAYA Analysis

Variant Limit of Detection (vLoD) Algorithm

Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.