Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

A, Shoemark; B, Rubbo; M, Legendre; MR, Fassad; EG, Haarman; S, Best; ICM, Bon; J, Brandsma; PR, Burgel; G, Carlsson; SB, Carr; M, Carroll; M, Edwards; E, Escudier; I, Honoré; D, Hunt; G, Jouvion; MR, Loebinger; B, Maitre; D, Morris-Rosendahl; JF, Papon; CM, Parsons; MP, Patel; NS, Thomas; G, Thouvenin; WT, Walker; R, Wilson; C, Hogg; HM, Mitchison; JS, Lucas

doi:10.1183/13993003.02359-2020

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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shared by NobleBlocks on Aug 5, 2021 • 12:00 AM UTC

Authors:

Shoemark A

Rubbo B

Legendre M

Abstract

Background Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype relationships have mostly arisen from small case series because existing statistical approaches to investigating relationships have be...

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