Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.
☆52Mar 8, 2026Updated 2 weeks ago
Alternatives and similar repositories for gnomAD_DB
Users that are interested in gnomAD_DB are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆17Jul 13, 2021Updated 4 years ago
- AESTETIK: Convolutional autoencoder for learning spot representations from spatial transcriptomics and morphology data☆20Mar 9, 2026Updated 2 weeks ago
- This repo is designed as a step-by-step tutorial to teach RNA-seq analysis☆16Dec 21, 2025Updated 3 months ago
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 3 years ago
- Benchmarking of CNV calling tools☆18May 18, 2019Updated 6 years ago
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 8 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- Phenotype driven gene prioritization for HPO☆52Jul 26, 2021Updated 4 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆39Nov 19, 2025Updated 4 months ago
- Small R package with some functions to visualize DGE results downstream of DESeq2☆12Jul 6, 2023Updated 2 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- This repository contains information about ongoing analysis performed by GIAB☆14Aug 30, 2019Updated 6 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Mar 20, 2023Updated 3 years ago
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆14Aug 25, 2025Updated 7 months ago
- DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 8 years ago
- Variant catalogue pipeline☆26Jan 30, 2026Updated last month
- Whole exome sequencing pipeline including advanced variant annotation features and automated PDF reporting.☆17Jan 29, 2026Updated last month
- An R meta-package for the analysis of Next Generation Sequencing data☆27Mar 16, 2026Updated last week
- ☆41Jun 16, 2025Updated 9 months ago
- VariantGrid public repo☆24Updated this week
- WES HLA Typing based on multiple alternative tools☆18Mar 8, 2021Updated 5 years ago
- Displaying Strava stats on a Inky Impressions e-ink display☆13Jul 8, 2025Updated 8 months ago
- [deprecated] 🧬 Python API to fetch gnomAD data☆23Dec 9, 2021Updated 4 years ago
- DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- LongSom tool for long-reads☆11May 20, 2025Updated 10 months ago
- Characterization of Germline variants☆100Mar 15, 2022Updated 4 years ago
- ☆10Aug 13, 2025Updated 7 months ago
- Cellsnake tool main repo☆36Feb 22, 2024Updated 2 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Nov 28, 2025Updated 3 months ago
- LOVD3 development repository☆25Oct 13, 2025Updated 5 months ago
- A modular annotation tool for genomic variants☆147Mar 18, 2026Updated last week
- An end-to-end computational pipeline for large Perturb-seq screens☆15Apr 25, 2025Updated 11 months ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- MOLGENIS EMX2, the latest version of the MOLGENIS data platform.☆25Updated this week
- CSCS User Lab Day – Meet the Swiss National Supercomputing Centre☆13Sep 12, 2025Updated 6 months ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago
- ☆16Dec 19, 2016Updated 9 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Mar 4, 2019Updated 7 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 4 months ago
- Serialize to and from R and JSON, JavaScript Object Notation☆25Mar 26, 2025Updated last year