raonyguimaraes / mendelmdView external linksLinks
An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
☆36Feb 21, 2024Updated last year
Alternatives and similar repositories for mendelmd
Users that are interested in mendelmd are comparing it to the libraries listed below
Sorting:
- This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Di…☆23Mar 21, 2021Updated 4 years ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 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 7 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
- Mapping-free variant caller for short-read Illumina data☆20Apr 2, 2020Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Jan 28, 2026Updated 2 weeks ago
- Repo for downloading and storing OMIM data☆19Oct 6, 2016Updated 9 years ago
- A protocol to estimate global ancestry starting from raw Illumina data☆11Oct 16, 2019Updated 6 years ago
- ☆21Oct 24, 2020Updated 5 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 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 8 years ago
- pREST adapters package☆11Jul 21, 2020Updated 5 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- Natural Language Search and Analysis of High Dimensional Genomic Data☆48Aug 7, 2025Updated 6 months ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- Variant caller GUI + genetic disease analysis☆22Apr 29, 2020Updated 5 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- Provides technical doc in ebook formats☆13Mar 26, 2013Updated 12 years ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 3 months ago
- ☆13May 2, 2018Updated 7 years ago
- ☆11Sep 27, 2016Updated 9 years ago
- distinct: a method for differential analyses via hierarchical permutation tests☆11Dec 4, 2023Updated 2 years ago
- Relay PostgreSQL notifications to user defined functions☆14Aug 30, 2017Updated 8 years ago
- A commenting system extension for Flask, threaded and API based working just like disqus but self hosted.☆11Jul 27, 2015Updated 10 years ago
- Tema Pelican baseado no framework CSS materialize☆13Sep 12, 2016Updated 9 years ago
- 13ª Conferência Python Brasil☆10Jun 10, 2023Updated 2 years ago
- Facebook GraphAPI wrapper using tapioca☆28Jun 1, 2016Updated 9 years ago
- extract SV signal from a BAM☆11Jul 26, 2018Updated 7 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 7 months ago
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- Generic Interactive Variant Analysis browser☆29Apr 12, 2022Updated 3 years ago
- Take care of writing and reading on AWS S3 and others storage providers☆10Nov 22, 2019Updated 6 years ago
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Mar 15, 2017Updated 8 years ago
- gnomAD browser pre-ASHG 2018☆33Nov 2, 2020Updated 5 years ago
- Fluor Functions is an experimental serverless platform written in Rust.☆16Feb 5, 2026Updated last week
- LEGACY repository for SODAR Core, preserved for saving review-related issues. See "sodar-core" for the up-to-date repository.☆15Jun 1, 2022Updated 3 years ago
- Code developed in video series "Machine Learning Recipes", eventually with some personal comments and annotations.☆12Oct 31, 2017Updated 8 years ago