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Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

By Jamie M Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, on behalf of the 100,000 Genomes Project, Graeme CM Black, William G Newman

Posted 10 Oct 2018
bioRxiv DOI: 10.1101/438838

Understanding the genomic basis of inherited respiratory disorders can assist in the clinical management of individuals with these rare disorders. We apply whole genome sequencing for the discovery of disease-causing variants in the non-coding regions of known disease genes for two individuals with inherited respiratory disorders. We describe analysis strategies to pinpoint candidate non-coding variants within the non-coding genome and demonstrate aberrant RNA splicing as a result of deep intronic variants in DNAH11 and CFTR. These findings confirm clinical diagnoses of primary ciliary dyskinesia and cystic fibrosis, respectively.

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