Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. …
☆16Aug 9, 2018Updated 7 years ago
Alternatives and similar repositories for seave
Users that are interested in seave are comparing it to the libraries listed below
Sorting:
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months 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
- myVCF: a web-based platform for target and exome mutations data management☆21Apr 13, 2021Updated 4 years ago
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Mar 15, 2017Updated 8 years ago
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 2 weeks ago
- Allele frequency filter app☆14May 4, 2022Updated 3 years ago
- ☆16Oct 17, 2024Updated last year
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 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
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 years ago
- Pangolin is a deep-learning method for predicting splice site strengths.☆85Jun 17, 2024Updated last year
- ☆21Aug 30, 2022Updated 3 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆64Updated this week
- ☆16Dec 19, 2016Updated 9 years ago
- Towards fast and accurate SNP genotyping from whole genome sequencing data for bedside diagnostics.☆22Feb 10, 2019Updated 7 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Feb 6, 2026Updated 3 weeks ago
- ☆11Aug 13, 2025Updated 6 months ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- Fast, efficient, lossless compression of fastq files☆14Jan 4, 2021Updated 5 years ago
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- A visualization tool for Systems-Level Interactive Data Exploration☆12Jan 12, 2022Updated 4 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Sep 27, 2021Updated 4 years ago
- a Shiny/R application to view and annotate copy number variations☆28Mar 8, 2023Updated 2 years ago
- Benchmarking toolkit for variant calling☆48Oct 13, 2020Updated 5 years ago
- HGVS variant description extractor☆11Sep 14, 2020Updated 5 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 5 years ago
- Genomic Visualization Catalog☆13Oct 6, 2022Updated 3 years ago
- ☆19Jul 28, 2025Updated 7 months ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆13Oct 7, 2025Updated 4 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- Curated list of resources for variant prioritization☆13Nov 18, 2025Updated 3 months ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 4 months ago
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 3 years ago
- Targeted and non-targeted anticancer drugs and drug regimens☆30Updated this week
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆27Jul 26, 2024Updated last year