Genetic & Genomic MedicinemedRxivPreprint
CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.
Francisco Requena, David Salgado, Valérie Malan…·Antonio Rausell
CNVscore calculates pathogenicity scores for copy number variants with uncertainty estimates, improving the assessment of CNV pathogenicity in rare disease cohorts.
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