Automatic classification of sequence variants and CNVs according to ACMG criteria.
☆32Sep 30, 2024Updated last year
Alternatives and similar repositories for auto-acmg
Users that are interested in auto-acmg are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Bitscopic Interpreting ACMG Standards 2015☆34Mar 10, 2026Updated 4 months ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year
- ☆21Aug 30, 2022Updated 3 years ago
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 6 months ago
- A Mendelian approach to variant effect prediction built in keras☆20Nov 3, 2025Updated 8 months ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆26Jun 22, 2026Updated last month
- A pipeline for the identification of Compound Heterozygous Variants☆10Nov 10, 2022Updated 3 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Jul 22, 2026Updated last week
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Mar 20, 2023Updated 3 years ago
- REEV: Explanation and Evaluation of Variants☆11Apr 27, 2026Updated 3 months ago
- Functional code templates for the Star Protocols paper describing consolidated WES variant calling with 3 callers☆10Oct 18, 2024Updated last year
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Tests Allelic Expression data for extreme imbalance w.r.t. population☆11Oct 8, 2021Updated 4 years ago
- ☆24Updated this week
- 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.
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 7 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆12Nov 7, 2024Updated last year
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 3 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆212May 28, 2023Updated 3 years ago
- A modular annotation tool for genomic variants☆156Jul 18, 2026Updated last week
- ☆27Mar 2, 2026Updated 4 months ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Jul 13, 2026Updated 2 weeks ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆96Jun 29, 2026Updated last month
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Clinical machine-learning based interpreter of germline mutations.☆11Mar 13, 2025Updated last year
- Peak calling for 4C data☆13May 4, 2018Updated 8 years ago
- A software toolkit for the interconversion of standard data models for phenotypic data☆16Updated this week
- A script to run HLA typing tools from next generation sequencing data☆12Jan 4, 2023Updated 3 years ago
- A framework for empirical evaluation of phenotype matching and prioritisation☆19Apr 14, 2026Updated 3 months ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 8 months ago
- Snakemake workflow for somatic mutation detection without matched normal samples☆13Mar 4, 2023Updated 3 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 6 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆32Jul 3, 2026Updated 3 weeks ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- ☆13Dec 7, 2021Updated 4 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 6 years ago
- ☆23Sep 21, 2021Updated 4 years ago
- CADD-SV – a framework to score the effect of structural variants☆22Jul 21, 2026Updated last week
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- A Tool to Annotate and Prioritize Exome Variants☆260Jul 13, 2026Updated 2 weeks ago
- Crossmapped phenotype ontologies for the oncology domain☆16Jul 9, 2026Updated 2 weeks ago