acmg-guidelines

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Here are 5 public repositories matching this topic...

damianosmel / GenOtoScope

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Automated ACMG/AMP classification for human variants associated with congenital hearing loss

bioinformatics variant hearing-loss human-genetics research-only pathogenicity-classification acmg-guidelines

Updated May 9, 2023
Python

bihealth / auto-acmg

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Automatic classification of sequence variants and CNVs according to ACMG criteria.

algorithm variant-analysis acmg-guidelines

Updated Sep 30, 2024
Python

PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing

python bioinformatics genetics clinvar variant-annotations hgvs gnomad vep-annotation acmg-guidelines

Updated Nov 2, 2024
Python

Hansi-Thewarapperuma / Inherited_Risk_Detector

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Identification of cancer-causing variants

Updated Apr 19, 2024
Python

Derick80 / derickhoskinson.com

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The newest iteration of my personal web app.

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

Updated Oct 23, 2024
TypeScript

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acmg-guidelines

Here are 5 public repositories matching this topic...

damianosmel / GenOtoScope

bihealth / auto-acmg

pstawinski / pygenebe

Hansi-Thewarapperuma / Inherited_Risk_Detector

Derick80 / derickhoskinson.com

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