In silico prediction tools and metaservers used in the current study | Download Table
ACMG 2019 | Genomenon
Frontiers | Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation | Human Genomics | Full Text
ASHG 2021 Poster: Automated classification of copy number variants based on 2019 ACMG standards - bionanogenomics
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice - ScienceDirect
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ACMG/AMP guidelines for the use of computational and prediction... | Download Scientific Diagram
The list of available bioinformatics tools for mtDNA analysis. | Download Table
We Are Headed to ACMG 2023! | The Golden Helix Blog
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Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup - ScienceDirect
Genetics in Medicine
ACMG on X: "ACMG publishes new ACMG Therapeutics Bulletin: “Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA)” in GIM Open, the College's gold open access journal: https://t.co/43F9LEoG1S #
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
InterVar tool to predict variant pathogenicity - YouTube
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