Genetics in Medicine
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants | BMC Genomics | Full Text
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
We Are Headed to ACMG 2023! | The Golden Helix Blog
ACMG guideline – 두마디 정밀의료
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In silico prediction tools and metaservers used in the current study | Download Table
GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Frontiers | Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
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 #
InterVar tool to predict variant pathogenicity - YouTube
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice - ScienceDirect
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
Sections/parameters of the ACMG criteria that are evaluated/not... | Download Scientific Diagram
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ACMG/AMP guidelines for the use of computational and prediction... | Download Scientific Diagram
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
ASHG 2021 Poster: Automated classification of copy number variants based on 2019 ACMG standards - bionanogenomics
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