Medical Genetics Sequence Analysis Pipelines
☆89May 21, 2026Updated this week
Alternatives and similar repositories for megSAP
Users that are interested in megSAP are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Short-read and long-read sequencing tools for diagnostics☆178Updated this week
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆94May 15, 2026Updated last week
- ☆13Dec 7, 2021Updated 4 years ago
- ☆14Dec 13, 2023Updated 2 years ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Apr 17, 2026Updated last month
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- A nextflow pipeline for calling exome CNVs☆14May 19, 2026Updated last week
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆53Updated this week
- WDL workflows for variant calling and assembly using ONT☆39May 12, 2026Updated 2 weeks ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- A short tandem repeat (STR) genotyping and analysis toolkit for long reads☆18May 19, 2026Updated last week
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 6 years ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 8 years ago
- Fast and scalable nanopore adaptive sampling☆36Jun 6, 2023Updated 2 years ago
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- Tandem repeat genotyping from long reads☆23Apr 5, 2026Updated last month
- Automatised pipeline of ConsensuSV workflow.☆24Aug 23, 2023Updated 2 years ago
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- cnv-seq with custom bugfix☆10Mar 23, 2013Updated 13 years ago
- ☆21Aug 30, 2022Updated 3 years ago
- Copy Number Variations (CNV) Simulator☆11Jul 30, 2018Updated 7 years ago
- ☆56Jan 11, 2023Updated 3 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆66May 19, 2026Updated last week
- ☆12Apr 18, 2022Updated 4 years ago
- Deploy open-source AI quickly and easily - Special Bonus Offer • AdRunpod Hub is built for open source. One-click deployment and autoscaling endpoints without provisioning your own infrastructure.
- Complex structural variant visualization for HiFi sequencing data☆48Oct 24, 2025Updated 7 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆108Dec 14, 2020Updated 5 years ago
- One stop MIP design and analysis☆24Sep 30, 2020Updated 5 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 7 years ago
- Expanded STR algorithm for Illumina sequencing data☆23Sep 11, 2022Updated 3 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆26Mar 26, 2026Updated 2 months ago
- mtDNA-Server 2: A web-service and Nextflow pipeline for mitochondrial genomes☆22May 19, 2026Updated last week
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Mar 4, 2019Updated 7 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆79Jun 30, 2025Updated 10 months ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated 4 months ago
- ☆11Mar 23, 2026Updated 2 months ago
- Annotation and Ranking of Structural Variation☆296May 12, 2026Updated 2 weeks ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- A tool for estimating repeat sizes☆210Jan 30, 2024Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- Cancer Predisposition Sequencing Reporter (CPSR)☆64Updated this week