GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss - Melidis, Damianos P.; Landgraf, Christian; Schmidt, Gunnar; Schöner-Heinisch, Anja; von Hardenberg, Sandra; Lesinski-Schiedat, Anke; Nejdl, Wolfgang; Auber, Bernd (PLoS computational biology, 2022)
Keywords: Algorithms; Analysis; Automation; Bioinformatics; Biology and Life Sciences; Classification; Computational biology; Computer and Information Sciences; Criteria; Datasets; Disease; Disorders; Genes; Genetic aspects; Genetic Testing; Genetic Variation - genetics; Genetics; Genome, Human; Genotype & phenotype; Hearing; Hearing loss; Hearing Loss - genetics; Humans; Inspection; Interfaces; Investigations; Laboratories; Line interfaces; Medical genetics; Medicine and Health Sciences; Methods; Mutation; Next-generation sequencing; Patients; Research and Analysis Methods; United States; Websites; United States; Taiwan