PT  - JOURNAL ARTICLE
AU  - Jamie M Ellingford
AU  - Glenda Beaman
AU  - Kevin Webb
AU  - Christopher O’Callaghan
AU  - Robert A Hirst
AU  - on behalf of the 100,000 Genomes Project
AU  - Graeme CM Black
AU  - William G Newman
TI  - Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
AID  - 10.1101/438838
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 438838
4099  - http://biorxiv.org/content/early/2018/10/10/438838.short
4100  - http://biorxiv.org/content/early/2018/10/10/438838.full
AB  - 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.