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A prioritization tool for cilia-associated genes and their in vivo resources unveil new avenues for ciliopathy research.

Robert E Van SciverTamara Caspary
Published in: Disease models & mechanisms (2024)
Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. About 10% of mammalian genes encode cilia-associated proteins and a major gap in the cilia research field is prioritizing which genes to study and finding the in vivo vertebrate mutant alleles and reagents available for their study. Here we present a unified resource listing the cilia-associated human genes cross-referenced to available mouse and zebrafish mutant alleles, their associated phenotypes as well as expression data in kidney and functional data for vertebrate Hedgehog signaling. This resource empowers researchers to easily sort and filter genes based on their own expertise and priorities, cross-reference with newly-generated -omics datasets, and quickly find in vivo resources and phenotypes associated with a gene of interest.
Keyphrases
  • genome wide
  • genome wide identification
  • endothelial cells
  • bioinformatics analysis
  • genome wide analysis
  • dna methylation
  • poor prognosis
  • gene expression
  • big data
  • copy number
  • single cell
  • rna seq