Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

ConclusionsWe leveraged the UKBB database to comprehensively characterize the broad spectrum ofCFTR variants across ancestries. The detection of over 4000CFTR variants, including several ancestry-specific and uncharacterizedCFTR variants, warrants the need for further characterization of their functional and clinical relevance. Overall, the presentation of classical CF phenotypes seen in non-CF diagnosed participants with more than one CF-causing variant indicates that they may benefit from current CFTR modulator therapies.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research