imgag / megSAP
a Medical Genetics Sequence Analysis Pipeline
☆70Updated this week
Related projects ⓘ
Alternatives and complementary repositories for megSAP
- Workflows for converting between sequence data formats☆37Updated 3 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆65Updated 2 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆74Updated 4 months ago
- TIDDIT - structural variant calling☆69Updated 3 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated 2 weeks ago
- Snakemake-based workflow for detecting structural variants in genomic data☆77Updated 8 months ago
- Variant Calling Pipeline Using GATK4 and Nextflow☆52Updated last year
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated 8 months ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆40Updated 5 years ago
- phasing and Allele Specific Expression from RNA-seq☆110Updated 3 months ago
- Data and information about the Polaris study☆52Updated 4 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- Lima - Demultiplex Barcoded PacBio Samples☆65Updated last week
- Clinical interpretation of somatic mutations in cancer☆42Updated 2 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆30Updated 5 months ago
- Documenting usage and experience with bioinformatic tools☆40Updated 9 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Analysis of subclonal copy number alterations (CNA) and loss of heterozygosity (LOH) in cancer☆94Updated 3 years ago
- Phenotype driven gene prioritization for HPO☆44Updated 3 years ago
- CrossMap is a python program to lift over genome coordinates from one genome version to another.☆74Updated 3 weeks ago
- QDNAseq package for Bioconductor☆48Updated 3 months ago
- Somatic copy number analysis using WGS paired end wholegenome sequencing☆68Updated 3 years ago
- Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data☆114Updated 3 years ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆46Updated this week
- Helper scripts for biological data processing from Sentieon☆63Updated 2 weeks ago
- A tool to identify, orient, trim and rescue full length cDNA reads☆80Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆21Updated last year
- Breakpoints via assembly - Identifies breaks and attempts to assemble rearrangements in whole genome sequencing data.☆57Updated 3 months ago
- CNV screening and annotation tool☆24Updated 8 years ago
- ☆24Updated 4 years ago