Rxivist logo

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.

Download data

  • Downloaded 1,237 times
  • Download rankings, all-time:
    • Site-wide: 7,999 out of 88,628
    • In genomics: 1,229 out of 5,654
  • Year to date:
    • Site-wide: 17,748 out of 88,628
  • Since beginning of last month:
    • Site-wide: 13,389 out of 88,628

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News