Genetics in Medicine
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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ACMG/AMP guidelines for the use of computational and prediction... | Download Scientific Diagram
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GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Sections/parameters of the ACMG criteria that are evaluated/not... | Download Scientific Diagram
The list of available bioinformatics tools for mtDNA analysis. | Download Table
Announcing the Release of Mastermind ACMG Interpretation Tool
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup - ScienceDirect
Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
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SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
Frontiers | Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | Scientific Reports
In silico prediction tools and metaservers used in the current study | Download Table
ClassifyCNV: a tool for clinical annotation of copy-number variants | Scientific Reports
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 #
ACMG guideline – 두마디 정밀의료
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SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
Hello, ACMG scoreboard. Goodbye, external calculator tools - bionanogenomics
