Suzanne de Bruijn

259 Exploring the missing heritability in subjects with hearing loss and EVA 26. Lenth, R.V. Least-Squares Means: The R package lsmeans. Journal of Statistical Software 69 , 1-33 (2016). 27. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 , 1754-1760 (2009). 28. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research 20 , 1297-1303 (2010). 29. Krumm, N., Sudmant, P.H., Ko, A., O'Roak, B.J., Malig, M., Coe, B.P. et al. Copy number variation detection and genotyping from exome sequence data. Genome Research 22 , 1525-1532 (2012). 30. Chen, X., Schulz-Trieglaff, O., Shaw, R., Barnes, B., Schlesinger, F., Källberg, M. et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 32 , 1220-1222 (2016). 31. Boeva, V., Popova, T., Bleakley, K., Chiche, P., Cappo, J., Schleiermacher, G. et al. Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics 28 , 423-425 (2012). 32. de Bruijn, S.E., Smits, J.J., Liu, C., Lanting, C.P., Beynon, A.J., Blankevoort, J. et al. A RIPOR2 in- frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Journal of Medical Genetics 58 , 96 (2021). 33. Neveling, K., Mensenkamp, A.R., Derks, R., Kwint, M., Ouchene, H., Steehouwer, M. et al. BRCA testing by single-moleculemolecular inversion probes. Clinical Chemistry 63 , 503-512 (2017). 34. Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K. et al. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in Medicine 22 , 1235-1246 (2020). 35. Wesdorp, M., Murillo-Cuesta, S., Peters, T., Celaya, A.M., Oonk, A., Schraders, M. et al. MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse. American Journal of Human Genetics 103 , 74-88 (2018). 36. Karczewski, K.J., Francioli, L.C., Tiao, G., Cummings, B.B., Alföldi, J., Wang, Q. et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv , 531210 (2019). 37. Robinson, J.T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G. et al. Integrative genomics viewer. Nature Biotechnology 29 , 24-26 (2011). 38. Kircher, M.,Witten, D.M., Jain, P., O'Roak, B.J., Cooper, G.M. & Shendure, J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics 46 , 310- 315 (2014). 39. Vaser, R., Adusumalli, S., Leng, S.N., Sikic, M. & Ng, P.C. SIFT missense predictions for genomes. Nature Protocols 11 , 1 (2015). 40. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P. et al. A method and server for predicting damaging missense mutations. Nature Methods 7 , 248-249 (2010). 41. Schwarz, J.M., Cooper, D.N., Schuelke, M. & Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nature Methods 11 , 361 (2014).

RkJQdWJsaXNoZXIy ODAyMDc0