An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
☆36May 16, 2026Updated last week
Alternatives and similar repositories for mendelmd
Users that are interested in mendelmd are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Di…☆23May 16, 2026Updated 2 weeks ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 years ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Jul 25, 2023Updated 2 years ago
- Listener for PostgreSQL notifications that dispatch via command execution☆14Sep 27, 2022Updated 3 years ago
- Thorin is a CLI to make a snapshots on Digital Ocean☆14Mar 20, 2018Updated 8 years ago
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- Repo for downloading and storing OMIM data☆19Oct 6, 2016Updated 9 years ago
- ☆21Oct 24, 2020Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19May 9, 2026Updated 3 weeks ago
- Variant caller GUI + genetic disease analysis☆22Apr 29, 2020Updated 6 years ago
- Relay PostgreSQL notifications to user defined functions☆15Aug 30, 2017Updated 8 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 years ago
- Mapping-free variant caller for short-read Illumina data☆20Apr 2, 2020Updated 6 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆71Apr 14, 2026Updated last month
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆43Nov 21, 2022Updated 3 years ago
- distinct: a method for differential analyses via hierarchical permutation tests☆13Dec 4, 2023Updated 2 years ago
- Fluor Functions is a serverless platform written in Rust.☆16Apr 24, 2026Updated last month
- Generic Interactive Variant Analysis browser☆29Apr 12, 2022Updated 4 years ago
- Natural Language Search and Analysis of High Dimensional Genomic Data☆48Apr 13, 2026Updated last month
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Mar 15, 2017Updated 9 years ago
- pREST adapters package☆11Jul 21, 2020Updated 5 years ago
- 13ª Conferência Python Brasil☆10Jun 10, 2023Updated 2 years ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 6 months ago
- Method for detecting STR expansions from short-read sequencing data☆63Dec 15, 2021Updated 4 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 7 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 11 months ago
- Rust Roadshow 🇧🇷 2-4 de fevereiro de 2018☆44Mar 9, 2018Updated 8 years ago
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 9 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- 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.
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- ☆13May 2, 2018Updated 8 years ago
- A web application from the Raphael Lab for mutation annotation and genome interpretation.☆20Feb 16, 2018Updated 8 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 4 years ago
- gnomAD browser pre-ASHG 2018☆33Nov 2, 2020Updated 5 years ago
- Tema Pelican baseado no framework CSS materialize☆13Sep 12, 2016Updated 9 years ago
- Local destinado para informações gerais dos grupos no Brasil.☆26Feb 19, 2018Updated 8 years ago