%0 Journal Article
%T Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients
%A Alekh Paranjapye
%A Ann Harris
%A Claude F¨¦rec
%A Hiroshi Ishiguro
%A Jenny L. Kerschner
%A Johanna Rommens
%A Marie-Pierre Audr¨¦zet
%A Miyuki Nakakuki
%A Sujana Ghosh
%A Wilmel R. Cosme
%J The Journal of Molecular Diagnostics
%D 2019
%R 10.1016/j.jmoldx.2018.08.011
%X It is estimated that up to 5% of cystic fibrosis transmembrane conductance regulator
(CFTR) pathogenic alleles are unidentified. Some of these errors may lie in noncoding
regions of the locus and affect gene expression. To identify regulatory element variants
in the CFTR locus, SureSelect targeted enrichment of 460 kb encompassing the gene
was optimized to deep sequence genomic DNA from 80 CF patients with an unequivocal
clinical diagnosis but only one or no CFTR-coding region pathogenic variants.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30236-8/fulltext