ACMG guideline – 두마디 정밀의료
Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
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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
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation | Human Genomics | Full Text
In silico prediction tools and metaservers used in the current study | Download Table
Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup - ScienceDirect
The list of available bioinformatics tools for mtDNA analysis. | Download Table
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SEQ Platform's Automated Variant Classification Tool: Highlighting VUS+ And VUS++ Classification
GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | Scientific Reports
Hello, ACMG scoreboard. Goodbye, external calculator tools - bionanogenomics
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ASHG 2021 Poster: Automated classification of copy number variants based on 2019 ACMG standards - bionanogenomics
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
