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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Autor: Shearer AE; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Eppsteiner RW; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Booth KT; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Ephraim SS; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA., Gurrola J 2nd; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Simpson A; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Black-Ziegelbein EA; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Joshi S; Agilent Technologies, Cedar Creek, TX 78612, USA., Ravi H; Agilent Technologies, Cedar Creek, TX 78612, USA., Giuffre AC; Agilent Technologies, Cedar Creek, TX 78612, USA., Happe S; Agilent Technologies, Cedar Creek, TX 78612, USA., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg, VIC 3084, Australia., Azaiez H; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Bayazit YA; Department of Otolaryngology, Faculty of Medicine, Medipol University, Istanbul 34083, Turkey., Erdal ME; Department of Medical Biology and Genetics, University of Mersin, Mersin 33160, Turkey., Lopez-Escamez JA; Otology and Neurotology Group CTS495, Center for Genomic and Oncological Research (GENyO), Granada 18012, Spain., Gazquez I; Otology and Neurotology Group CTS495, Center for Genomic and Oncological Research (GENyO), Granada 18012, Spain., Tamayo ML; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia., Gelvez NY; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia., Leal GL; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia., Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY 11204, USA., Ekstein J; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY 11211, USA., Yang T; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, and the Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai 20025, China., Usami S; Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Nagano 390-8621, Japan., Kahrizi K; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran., Bazazzadegan N; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran., Najmabadi H; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran., Scheetz TE; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA., Braun TA; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA., Casavant TL; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA., LeProust EM; Agilent Technologies, Cedar Creek, TX 78612, USA., Smith RJ; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address: richard-smith@uiowa.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 Oct 02; Vol. 95 (4), pp. 445-53. Date of Electronic Publication: 2014 Sep 25.