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260 Chapter 5 42. Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J.F., Darbandi, S.F., Knowles, D., Li, Y.I. et al. Predicting splicing from primary sequence with deep learning. Cell 176 , 535-548 (2019). 43. Sangermano, R., Khan, M., Cornelis, S.S., Richelle, V., Albert, S., Garanto, A. et al. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. Genome Research 28 , 100-110 (2018). 44. Kent, W.J., Sugnet, C.W., Furey, T.S., Roskin, K.M., Pringle, T.H., Zahler, A.M. et al. The human genome browser at UCSC. Genome Research 12 , 996-1006 (2002). 45. Mantere, T., Neveling, K., Pebrel-Richard, C., Benoist, M., van der Zande, G., Kater-Baats, E. et al. Optical genome mapping enables constitutional chromosomal aberration detection. American Journal of Human Genetics 108 , 1409-1422 (2021). 46. Neveling, K., Mantere, T., Vermeulen, S., Oorsprong, M., van Beek, R., Kater-Baats, E. et al. Next-generation cytogenetics: comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. American Journal of Human Genetics 108 , 1423-1435 (2021). 47. Pedersen, B.S. & Quinlan, A.R. Mosdepth: quick coverage calculation for genomes and exomes. Bioinformatics 34 , 867-868 (2018). 48. Van Camp, G. & Smith, R. Hereditary Hearing Loss Homepage. Available from: https:// hereditaryhearingloss.org . 49. Landrum, M.J., Lee, J.M., Benson, M., Brown, G.R., Chao, C., Chitipiralla, S. et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Research 46 , d1062-d1067 (2018). 50. Azaiez, H., Booth, K.T., Ephraim, S.S., Crone, B., Black-Ziegelbein, E.A., Marini, R.J. et al. Genomic landscape and mutational signatures of deafness-associated genes. American Journal of Human Genetics 103 , 484-497 (2018). 51. Oza, A.M., DiStefano, M.T., Hemphill, S.E., Cushman, B.J., Grant, A.R., Siegert, R.K. et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation 39 , 1593-1613 (2018). 52. Yariz, K.O., Duman, D., Zazo Seco, C., Dallman, J., Huang, M., Peters, T.A. et al. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. American Journal of Human Genetics 91 , 872-882 (2012). 53. Oonk, A.M., Leijendeckers, J.M., Huygen, P.L., Schraders, M., del Campo, M., del Castillo, I. et al. Similar phenotypes caused by mutations in OTOG and OTOGL. Ear and Hearing 35 , e84-e91 (2014). 54. Genomes Project Consortium, Auton, A., Brooks, L.D., Durbin, R.M., Garrison, E.P., Kang, H.M. et al. A global reference for human genetic variation. Nature 526 , 68-74 (2015). 55. van Beeck Calkoen, E.A., Engel, M.S.D., van de Kamp, J.M., Yntema, H.G., Goverts, S.T., Mulder, M.F. et al. The etiological evaluation of sensorineural hearing loss in children. European Journal of Pediatrics 178 , 1195-1205 (2019). 56. Fishilevich, S., Nudel, R., Rappaport, N., Hadar, R., Plaschkes, I., Iny Stein, T. et al. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. Database (Oxford) 2017 , bax028 (2017).