Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

15 We also used the UMCG Groningen Gene Network tool which analyses data from 80 000 Gene Expression Omnibus microarrays to predict gene function in Gene Ontology Consortium terms, and found the top-scoring predictions for ARMC4 were highly significant and all involved in cilia functions: ciliary or flagella motility (p=6.10×10 −19 ), microtubule-based movement (p=1.16×10 −9 ) and cilium assembly (p=1.16×10 −9 ).

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