An automatic classification tool for PVS1 interpretation of null variants
☆44Mar 4, 2024Updated 2 years ago
Alternatives and similar repositories for autopvs1
Users that are interested in autopvs1 are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆13Dec 7, 2021Updated 4 years ago
- ☆19Mar 14, 2022Updated 4 years ago
- ☆15May 11, 2018Updated 7 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 11 months ago
- ☆14Dec 13, 2023Updated 2 years ago
- Serverless GPU API endpoints on Runpod - Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- Assign gene names to regions in a BED file☆25May 3, 2023Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- CNV screening and annotation tool☆25Oct 31, 2016Updated 9 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- An R package for Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH☆15Oct 17, 2021Updated 4 years ago
- ☆16Oct 17, 2024Updated last year
- omim database☆27Jun 13, 2024Updated last year
- Plot CNV data with a genome viewer in R☆15Apr 5, 2017Updated 9 years ago
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆35Jun 17, 2024Updated last year
- 361 Division - Scientific Training, Education and Learning☆28Oct 1, 2020Updated 5 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆26Mar 26, 2026Updated 3 weeks ago
- Personal Cancer Genome Reporter (PCGR)☆275Apr 1, 2026Updated 2 weeks ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 years ago
- Clinical machine-learning based interpreter of germline mutations.☆11Mar 13, 2025Updated last year
- Clin-mNGS: Automated pipeline for pathogen detection from clinical metagenomic data☆19Jun 29, 2021Updated 4 years ago
- Automatic classification of sequence variants and CNVs according to ACMG criteria.☆28Sep 30, 2024Updated last year
- Serverless GPU API endpoints on Runpod - Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- ☆11Oct 19, 2021Updated 4 years ago
- Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104☆19Aug 4, 2023Updated 2 years ago
- Microsatellite instability (MSI) detection for tumor only data.☆114Apr 23, 2024Updated last year
- PCR Primer Quality Control☆71Sep 29, 2025Updated 6 months ago
- Copy Number Variations (CNV) Simulator☆11Jul 30, 2018Updated 7 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- A tool to design highly specific PCR primers for the validation of genomic alterations including structural variants☆47May 21, 2017Updated 8 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 2 years ago
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- Universal RObust Peak Annotator☆16Dec 19, 2023Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 8 years ago
- NGS-PrimerPlex is a high-throughput tool for mupltiplex primer design☆70May 26, 2025Updated 10 months ago
- Internationalisation of the HPO content☆19Feb 27, 2023Updated 3 years ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆42Aug 17, 2021Updated 4 years ago
- Medical Genetics Sequence Analysis Pipelines☆88Updated this week
- Code for the DiscoTope-3.0 paper and model☆14Mar 19, 2026Updated last month