Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies,
including Joubert syndrome (JS), with defective cerebellar vermis development. We
performed a high-content genome-wide small interfering RNA (siRNA) screen to identify
genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-
learning approach, using SYSCILIA gold standard, Cildb3. 0, a centriole siRNA screen and
the GTex project, identifying 591 likely candidates. Intersection of this data with whole …
including Joubert syndrome (JS), with defective cerebellar vermis development. We
performed a high-content genome-wide small interfering RNA (siRNA) screen to identify
genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-
learning approach, using SYSCILIA gold standard, Cildb3. 0, a centriole siRNA screen and
the GTex project, identifying 591 likely candidates. Intersection of this data with whole …
[PDF][PDF] Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome 2
RO Silhavy, J Schroth, T Mazza, E Miccinilli, MS Zaki… - academia.edu
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies,
including Joubert 55 syndrome (JS), with defective cerebellar vermis development. We
performed a high-content genome-56 wide siRNA screen to identify genes regulating
ciliogenesis as candidates for JS. We analyzed results with 57 a supervised learning
approach, using SYSCILIA gold standard, Cildb3. 0, a centriole siRNA screen and the 58
GTex project, identifying 591 likely candidates. Intersection of this data with whole exome …
including Joubert 55 syndrome (JS), with defective cerebellar vermis development. We
performed a high-content genome-56 wide siRNA screen to identify genes regulating
ciliogenesis as candidates for JS. We analyzed results with 57 a supervised learning
approach, using SYSCILIA gold standard, Cildb3. 0, a centriole siRNA screen and the 58
GTex project, identifying 591 likely candidates. Intersection of this data with whole exome …
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