Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
☆12Jun 2, 2022Updated 4 years ago
Alternatives and similar repositories for vase
Users that are interested in vase are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- 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
- 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
- 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
- Accompanying analysis code for the FRASER manuscript☆25Aug 27, 2020Updated 5 years ago
- This is a summer training course at CCIC (Faculty of Computers and Information), Mansoura University, Egypt.☆22Apr 25, 2023Updated 3 years ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- CNV screening and annotation tool☆25Oct 31, 2016Updated 9 years ago
- MultiSKAT is an R-package focused at rare-variant analysis of continuous multiple phenotype data. This project contains the R-codes/funct…☆13Jun 11, 2019Updated 7 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Jul 1, 2026Updated 3 weeks ago
- web-based analysis tool for rare disease genomics☆212Updated this week
- A nextflow pipeline for calling exome CNVs☆14Updated this week
- Copy Number Variations (CNV) Simulator☆11Jul 30, 2018Updated 7 years ago
- Allele frequency filter app☆14May 4, 2022Updated 4 years ago
- R package to calculate the Aneuploidy Score from Chromosome Arm-level SCNAs/Aneuploidies (CAAs) as outlined and expanded by Shukla et al.…☆16Feb 17, 2021Updated 5 years ago
- Clinical machine-learning based interpreter of germline mutations.☆11Mar 13, 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.
- ☆18Jul 13, 2021Updated 5 years ago
- Semantic data model of the set of common data elements for rare disease registration☆12Oct 26, 2023Updated 2 years ago
- Generic human DNA variant annotation pipeline☆60Feb 13, 2024Updated 2 years ago
- Pipeline to automatically analyse SARS-CoV-2 Whole genome sequencing Illumina data obtained using EasySeq SARS-CoV-2/COVID-19 Whole Geno…☆15Jul 26, 2022Updated 3 years ago
- MOLGENIS EMX2, the latest version of the MOLGENIS data platform.☆25Updated this week
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18May 9, 2024Updated 2 years ago
- Variant quality checking scripts.☆12Feb 4, 2016Updated 10 years ago
- QDNAseq.hg38: QDNAseq bin annotation for the human genome build hg38☆19Dec 16, 2025Updated 7 months ago
- PharmGKB NGS Pipeline☆19Oct 2, 2018Updated 7 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.
- Introduction to Snakemake for Bioinformatics☆22Updated this week
- Annotation of VCF variants with functional impact and from databases (executable+library)☆66Jul 13, 2026Updated last week
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 8 months ago
- FUSE filesystem for the DNAnexus storage system☆13Apr 24, 2026Updated 3 months ago
- API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows☆20Apr 28, 2026Updated 2 months ago
- FRASER - Find RAre Splicing Events in RNA-seq☆55Feb 11, 2026Updated 5 months ago
- A curated list of bioinformatics bench-marking papers and resources.☆15Nov 27, 2019Updated 6 years ago
- A set of tools to annotate VCF files with expression and readcount data☆31Updated this week
- MIRA: Portable, Interactive Application for High-Quality Influenza, SARS-CoV-2 and RSV Genome Assembly, Annotation, and Curation☆25Updated this week
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- WebApp for DNA variants interpretation☆16Jul 9, 2026Updated 2 weeks ago
- Toolkit for calling and analyzing de novo STR mutations☆17Dec 17, 2023Updated 2 years ago
- ☆21Aug 30, 2022Updated 3 years ago
- ☆57Jan 11, 2023Updated 3 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50May 8, 2026Updated 2 months ago
- Gene-level general linear mixed model☆25Oct 1, 2025Updated 9 months ago
- Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v…☆53Updated this week