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acmg

Here are 9 public repositories matching this topic...

ding-lab / CharGer

Characterization of Germline variants

bioinformatics annotations clinical variants characterization pathogenicity clinvar vep diseases pathogenic-variants germline-variants exac acmg gnomad

Updated Mar 15, 2022
Python

sigven / cpsr

Cancer Predisposition Sequencing Reporter (CPSR)

docker cancer workflow-engine vcf cancer-genomics pathogenicity cancer-research report-generator pathogenic-variants germline-variants acmg inherited reporting-tool predisposition cancer-predisposition pathogenic-loci genomics-england-panelapp cancer-predisposition-report

Updated Oct 19, 2025
R

bitscopic / BIAS-2015

Bitscopic Interpreting ACMG 2015 Standards

bioinformatics cancer-genomics acmg

Updated Jan 8, 2026
Python

TheSergeyPixel / Diablo_ACMG

Tool for automated classification of genetic variants according to ACMG criteria.

python classification germline-variants acmg

Updated Sep 9, 2024
Python

liserjrqlxue / anno2xlsx

汇总临床全外分析结果，进行部分注释处理，生成下游解读系统需要的表格文件

xlsx annotate acmg aes-json

Updated Jul 5, 2023
Go

Bilmem2 / ACMG_Assistant

ACMG Assistant is a student-level, research-oriented variant classification tool developed to explore the practical application of ACMG/AMP 2015 and 2023 guidelines. It combines automated retrieval of annotation data from public APIs with structured interactive evidence collection to support systematic variant interpretation.

python bioinformatics genomics data-analysis variant-calling genetic-analysis variant-analysis bioinformatics-algorithms acmg bioinformatics-tool variant-interpretation acmg-guidelines variant-classification clinical-genetics

Updated Feb 6, 2026
Python

Derick80 / derickhoskinson.com

The newest iteration of my personal web app.

react typescript genetics mdx v0 prisma acmg tailwindcss shadcn-ui acmg-guidelines reactservercomponents nextjs15

Updated Feb 2, 2025
TypeScript

julesjacobsen / acmg

A simple CLI for decyphering ACMG codes and scores

acmg

Updated Jul 17, 2024
Rust

GeneGee / explanation-of-variants

Aid for explanation of genetic variants in human

genetic acmg variant-interpretation hereditary

Updated Aug 27, 2018
Python

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