ACMG 2019 | Genomenon
Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
The list of available bioinformatics tools for mtDNA analysis. | Download Table
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation | Human Genomics | Full Text
Hello, ACMG scoreboard. Goodbye, external calculator tools - bionanogenomics
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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | Scientific Reports
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup - ScienceDirect
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 #
Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
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Frontiers | Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
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GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
ASHG 2021 Poster: Automated classification of copy number variants based on 2019 ACMG standards - bionanogenomics
ACMG/AMP guidelines for the use of computational and prediction... | Download Scientific Diagram
ACMG - American College of Medical Genetics and Genomics on LinkedIn: #therapeutics #raredisease #medicalgenetics #gimopen #frda #friedreich…
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The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice - ScienceDirect
