Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
Sections/parameters of the ACMG criteria that are evaluated/not... | Download Scientific Diagram
The list of available bioinformatics tools for mtDNA analysis. | Download Table
ACMG/AMP guidelines for the use of computational and prediction... | Download Scientific Diagram
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Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
In silico prediction tools and metaservers used in the current study | Download Table
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation | Human Genomics | Full Text
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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ClassifyCNV: a tool for clinical annotation of copy-number variants | Scientific Reports
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SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
