Significantly enriched Gene Ontology (GO) terms among the 512 genes showing significant results in the all ancestry TWAS. Enrichment analyses were conducted using the multi-query in g:Profiler [16]. Columns include source, term name, GO id, and adjusted p-values across each phenotype definition. P-values were adjusted to maintain an experiment-wide type 1 error rate of 0.05 using the g:SCS algorithm which accounts for the dependent structure of functionally annotated gene sets.

<p>Significantly enriched Gene Ontology (GO) terms among the 512 genes showing significant results in the all ancestry TWAS. Enrichment analyses were conducted using the multi-query in g:Profiler [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1011581#pgen.1...

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Main Author:	Jenna C. Carlson (3950024) (author)
Other Authors:	Xinyi Zhang (36040) (author), Zeynep Erdogan-Yildirim (22339770) (author), Terri H. Beaty (9033168) (author), Azeez Butali (7410884) (author), Carmen J. Buxó (10576121) (author), Lord J.J. Gowans (7410833) (author), Jacqueline T. Hecht (8605047) (author), Ross E. Long (10176353) (author), Lina Moreno (134602) (author), Jeffrey C. Murray (7410881) (author), Ieda M. Orioli (10576118) (author), Carmencita Padilla (10576112) (author), George L. Wehby (9670086) (author), Eleanor Feingold (10018) (author), Elizabeth J. Leslie-Clarkson (20772341) (author), Seth M. Weinberg (8605056) (author), Mary L. Marazita (8605059) (author), John R. Shaffer (9031025) (author)
Published:	2025
Subjects:	Genetics Molecular Biology Biotechnology Evolutionary Biology Developmental Biology Cancer Mental Health Infectious Diseases Virology previously reported signal potential regulatory effects offer new clues novel association within nonsyndromic orofacial clefts embryonic facial development craniofacial enhancer activity biological processes result lead variant rs77075754 lead variant rs584402 lead variant rs4735314 lead variant rs17168118 three cohorts totaling observed novel association newly reported loci isolated cleft lip environmental risk factors five ofc phenotypes genes also overlapped div >< p orofacial cleft risk identify novel ofc without cleft palate xlink "> cl xlink "> also observed risk loci risk genes intronic variant intergenic variant ofc risk three regions identify subtype known ofc wide multi well characterized tissue twas tanc2 </ specific signals rbfox1 </ performed multi p ], ntn1 </ molecular mechanisms maximize power major hurdle grouped types esrp1 </ cald1 </ ancestry study
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