Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Holly A BlackSophie Marion de ProceJose L CamposAlison MeynertMihail HalachevJoseph A MarshRobert A HirstChris O'CallaghanAmelia ShoemarkDaniel Toddie-Moorenull nullJavier Santoyo-LopezJennie MurrayKenneth MacleodDon S UrquhartStefan A UngerTimothy J AitmanPleasantine Mill

Published in: Pediatric pulmonology (2024)

Here, WGS uplifted genetic diagnosis of PCD by identifying structural variants and novel modes of inheritance in new candidate genes. WGS could be an important component of the PCD diagnostic toolkit, increasing molecular diagnostic yield from current (70%) levels, and enhancing our understanding of fundamental biology of motile cilia and variants in the noncoding genome.

Keyphrases

copy number
mitochondrial dna
genome wide
gene expression