ubccr / genesysvView external linksLinks
Gene Exploration System for Variance
☆22Dec 8, 2022Updated 3 years ago
Alternatives and similar repositories for genesysv
Users that are interested in genesysv are comparing it to the libraries listed below
Sorting:
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆47Jun 26, 2020Updated 5 years ago
- PRINCESS source code☆11Oct 15, 2016Updated 9 years ago
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Mar 15, 2017Updated 8 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- paplot creates various dynamic and interactive reports for cancer genome analysis.☆26Feb 1, 2023Updated 3 years ago
- 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
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- gnomAD browser pre-ASHG 2018☆33Nov 2, 2020Updated 5 years ago
- ☆14Dec 13, 2023Updated 2 years ago
- Probabilistic HLA typing☆35Aug 31, 2019Updated 6 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- Website to analyze conflicting assertions in ClinVar☆19Jan 24, 2026Updated 3 weeks ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Jul 25, 2023Updated 2 years ago
- SEQSpark documentation☆18Nov 17, 2020Updated 5 years ago
- An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.☆36Feb 21, 2024Updated last year
- A protocol to estimate global ancestry starting from raw Illumina data☆11Oct 16, 2019Updated 6 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- Pan gGnome Viewer☆10Jul 10, 2025Updated 7 months ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- Use Amazon Comprehend Medical to extract medical insight from notes inside the OMOP Common Data Model☆14Feb 28, 2019Updated 6 years ago
- ☆13Dec 3, 2018Updated 7 years ago
- Use cloud technology to annotate human sequence variants in parallel.☆11Jun 4, 2021Updated 4 years ago
- WGS Pipeline☆13Jan 19, 2018Updated 8 years ago
- Open Targets Genetics UI☆15Jan 31, 2025Updated last year
- 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
- Client side iobio library for building and executing iobio commands☆10Dec 31, 2018Updated 7 years ago
- Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data☆23Apr 11, 2019Updated 6 years ago
- Burden testing against public controls☆50Feb 27, 2024Updated last year
- Natural Language Search and Analysis of High Dimensional Genomic Data☆48Aug 7, 2025Updated 6 months ago
- Evaluation of phasing performance☆23Mar 6, 2018Updated 7 years ago
- SeqOthello supports fast coverage query and containment query.☆12May 8, 2019Updated 6 years ago
- ☆13May 2, 2018Updated 7 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 4 years ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 3 months ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Mar 30, 2021Updated 4 years ago