imgag / megSAPLinks
a Medical Genetics Sequence Analysis Pipeline
☆86Updated last week
Alternatives and similar repositories for megSAP
Users that are interested in megSAP are comparing it to the libraries listed below
Sorting:
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 4 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- A suite of tools for detecting expansions of short tandem repeats☆85Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆70Updated 2 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆83Updated 3 years ago
- WisecondorX — An evolved WISECONDOR☆111Updated 2 months ago
- phasing and Allele Specific Expression from RNA-seq☆117Updated last year
- Snakemake-based workflow for detecting structural variants in genomic data☆82Updated 11 months ago
- ☆54Updated 3 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 5 years ago
- ☆75Updated 3 weeks ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆175Updated last year
- Variant Calling Pipeline Using GATK4 and Nextflow☆59Updated 2 years ago
- FEELnc : FlExible Extraction of LncRNA☆93Updated 6 months ago
- Burden testing against public controls☆50Updated last year
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Nanopore RNA-Seq data from the Singapore Nanopore-Expression Project☆149Updated 3 weeks ago
- Differential abundance analysis for feature/ observation matrices from platforms such as RNA-seq☆89Updated last week
- A tool for profiling long STRs from short reads☆104Updated 4 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated 2 weeks ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Updated 3 years ago
- BAM Statistics, Feature Counting and Annotation☆152Updated this week
- ClairS-TO - a deep-learning method for tumor-only somatic variant calling☆81Updated 3 months ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Updated 7 months ago
- Tip and tricks for BAM files☆86Updated 7 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- Relevant papers for CNV and SV approaches☆94Updated last year
- Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads☆108Updated 3 years ago
- QDNAseq package for Bioconductor☆54Updated last year
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated 2 months ago