Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Abstract

This large scale, multi-national study presents PCD as a syndrome with overlapping symptoms and variations in phenotype according to genotype. TDA modelling confirmed genotype-phenotype relationships reported by smaller studies (<i>e.g.</i> FEV₁ worse with <i>CCDC39</i> mutation) and identified new relationships, including FEV₁ preservation with <i>DNAH11</i> mutations and diversity of severity with <i>DNAH5</i> mutations.