Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensembl dataset. Originally developed as part of a Masters in Bioinformatics project @ University of Exeter
☆10May 7, 2017Updated 8 years ago
Alternatives and similar repositories for clinical_variant_database
Users that are interested in clinical_variant_database are comparing it to the libraries listed below
Sorting:
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 3 years ago
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated last month
- 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
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Mar 4, 2019Updated 6 years ago
- 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
- ☆21Aug 30, 2022Updated 3 years ago
- A protocol to estimate global ancestry starting from raw Illumina data☆11Oct 16, 2019Updated 6 years ago
- ☆11Oct 11, 2024Updated last year
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆52Feb 23, 2026Updated last week
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Software for creating and comparing genome fingerprints.☆11Jun 30, 2024Updated last year
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 4 months ago
- Clinical machine-learning based interpreter of germline mutations.☆12Mar 13, 2025Updated 11 months ago
- Curated list of resources for variant prioritization☆13Nov 18, 2025Updated 3 months ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆25Sep 30, 2025Updated 5 months ago
- Protocols for Secure Genomic Computation☆12Aug 28, 2017Updated 8 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Feb 12, 2022Updated 4 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- extract SV signal from a BAM☆11Jul 26, 2018Updated 7 years ago
- ☆15Oct 10, 2023Updated 2 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- Simulator for structural variants in various types of next-generation sequencing data☆11Mar 21, 2017Updated 8 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Feb 20, 2021Updated 5 years ago
- do some exercise☆14Dec 2, 2025Updated 3 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- Tandem repeat genotyping from long reads☆20Updated this week
- A secure encryption tool for genomic data☆62Apr 14, 2024Updated last year
- Annotation of VCF variants with functional impact and from databases (executable+library)☆64Feb 23, 2026Updated last week
- A Python library for performing DNA fragment-analysis☆13Aug 28, 2018Updated 7 years ago
- C++ wrapper to tabix indexer☆17Jun 27, 2025Updated 8 months ago
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 2 weeks ago