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We Are Headed to ACMG 2023! | The Golden Helix Blog
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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | Scientific Reports
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants | BMC Genomics | Full Text
GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
ACMG - American College of Medical Genetics and Genomics on LinkedIn: #therapeutics #raredisease #medicalgenetics #gimopen #frda #friedreich…
ClassifyCNV: a tool for clinical annotation of copy-number variants | Scientific Reports
ASHG 2021 Poster: Automated classification of copy number variants based on 2019 ACMG standards - bionanogenomics
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
In silico prediction tools and metaservers used in the current study | Download Table
Sections/parameters of the ACMG criteria that are evaluated/not... | Download Scientific Diagram
InterVar tool to predict variant pathogenicity - YouTube
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation | Human Genomics | Full Text
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The list of available bioinformatics tools for mtDNA analysis. | Download Table
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Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
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Announcing the Release of Mastermind ACMG Interpretation Tool
