Website to analyze conflicting assertions in ClinVar
☆20Mar 16, 2026Updated 7 months ago
Alternatives and similar repositories for clinvar-miner
Users that are interested in clinvar-miner are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 9 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- Shiny ClinVar web server source code☆13Apr 29, 2019Updated 7 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 10 years ago
- Pedigree drawing with ease☆24Feb 10, 2022Updated 4 years ago
- 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.
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 7 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆130Feb 13, 2020Updated 6 years ago
- Generic Interactive Variant Analysis browser☆29Apr 12, 2022Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Oct 23, 2026Updated 2 weeks ago
- An automated post sequencing data processing pipeline for Illumina HiSeq☆14Oct 5, 2026Updated last month
- Scripts and utilities for automatic processing & management of Illumina NGS sequencing data within the Bioinformatics Core Facility at th…☆10Aug 20, 2026Updated 2 months ago
- provides common tools and lookup tables used primarily by the hgvs and uta packages☆25Updated this week
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Apr 22, 2015Updated 11 years ago
- 🔬 R package: Analysis of Parent-Specific DNA Copy Numbers☆10Apr 18, 2025Updated last year
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆35Sep 25, 2026Updated last month
- pathoscore evaluates variant pathogenicity tools and scores.☆22Mar 25, 2022Updated 4 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Nov 21, 2022Updated 3 years ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆32Jul 6, 2022Updated 4 years ago
- A python3 package for operations on pedigree and genotype data☆21Nov 13, 2017Updated 8 years ago
- Parallel Genomic Analysis Toolkit☆14Feb 11, 2019Updated 7 years ago
- Services and guidelines for normalizing variants☆18Updated this week
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Nov 4, 2019Updated 7 years ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 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.
- CN-Learn☆30Jan 24, 2020Updated 6 years ago
- Multiple sequence alignment browser☆12Dec 12, 2022Updated 3 years ago
- ☆13Oct 26, 2018Updated 8 years ago
- find large indels (in the blind spot between GATK/freebayes and SV callers)☆39Dec 3, 2017Updated 8 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆16Oct 24, 2026Updated 2 weeks ago
- Public repository for VariantValidator project☆84Oct 5, 2026Updated last month
- Curated list of resources for variant prioritization☆16Nov 18, 2025Updated 11 months ago
- ☆14Dec 13, 2023Updated 2 years ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆54Updated this week
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- gnomAD browser pre-ASHG 2018☆32Nov 2, 2020Updated 6 years ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated last year
- Burden testing against public controls☆51Feb 27, 2024Updated 2 years ago
- Example project for integrating igv.js and flask☆26May 17, 2025Updated last year
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Mar 15, 2017Updated 9 years ago
- Variant caller GUI + genetic disease analysis☆22Apr 29, 2020Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆31Feb 20, 2021Updated 5 years ago