GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
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GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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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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Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants | BMC Genomics | Full Text
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