Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
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Updated
Jan 27, 2020 - Nextflow
Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
SNV calling from single cell sequencing
Characterization of Germline variants
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
Tool for automated classification of genetic variants according to ACMG criteria.
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
Multiple germline events lead to cancer development in patients with Li-Fraumeni syndrome
Depository for Bioinformatics Master Project HT2022-VT2023
Super fast conversion of GVF file format to VCF file format
Detect germline or somatic variants from normal or tumour/normal whole-genome, whole exome, or targeted sequencing with high performance computing.
CAYA Analysis
Variant Limit of Detection (vLoD) Algorithm
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