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 #
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
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ClassifyCNV: a tool for clinical annotation of copy-number variants | Scientific Reports
In silico prediction tools and metaservers used in the current study | Download Table
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ACMG - American College of Medical Genetics and Genomics on LinkedIn: #therapeutics #raredisease #medicalgenetics #gimopen #frda #friedreich…
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Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
Announcing the Release of Mastermind ACMG Interpretation Tool
InterVar tool to predict variant pathogenicity - YouTube
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants | BMC Genomics | Full Text
ACMG 2019 | Genomenon
The list of available bioinformatics tools for mtDNA analysis. | Download Table
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
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | Scientific Reports
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Hello, ACMG scoreboard. Goodbye, external calculator tools - bionanogenomics
We Are Headed to ACMG 2023! | The Golden Helix Blog
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
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