Article
Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.
Genome biology - 19 Feb 2026
Aarts Ellen M, Laman Trip Diederik S, Neatu Ruxandra, Martin Charlotte G, Riley Beth, Kraus Alison, Green Abigail, Al-Hamed Mohamed H, Armstrong Rachel E, Sayer John A, Bachmann-Gagescu Ruxandra, Beltrao Pedro
Abstract excerpt
BACKGROUND: Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex genotype–phenotype relationships of these diseases. Primary ciliopathies are a diverse group of rare disorders caused by variants in genes associated with the...
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