{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shearer AE"],"funding":["NIDCD NIH HHS","NIGMS NIH HHS"],"pagination":["445-53"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4185121"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["95(4)"],"pubmed_abstract":["Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 rep"],"journal":["American journal of human genetics"],"pubmed_title":["Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants."],"pmcid":["PMC4185121"],"funding_grant_id":["R01S DC003544","DC002842","R01 DC003544","F30 DC011674","1F30DC011674","DC012049","R01 DC012049","T32 GM007337","R01 DC002842"],"pubmed_authors":["Simpson A","Gurrola J","Ekstein J","Najmabadi H","Giuffre AC","Lopez-Escamez JA","Tamayo ML","Usami S","Ephraim SS","LeProust EM","Ravi H","Bazazzadegan N","Hildebrand MS","Black-Ziegelbein EA","Gelvez NY","Casavant TL","Smith RJ","Joshi S","Eppsteiner RW","Kahrizi K","Shearer AE","Booth KT","Erdal ME","Jalas C","Scheetz TE","Happe S","Leal GL","Gazquez I","Azaiez H","Yang T","Bayazit YA","Braun TA"],"additional_accession":[]},"is_claimable":false,"name":"Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.","description":"Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 rep","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Oct","modification":"2026-05-03T22:26:48.503Z","creation":"2019-03-27T01:37:00Z"},"accession":"S-EPMC4185121","cross_references":{"pubmed":["25262649"],"doi":["10.1016/j.ajhg.2014.09.001"]}}