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
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author Jenna C. Carlson (3950024)
author2 Xinyi Zhang (36040)
Zeynep Erdogan-Yildirim (22339770)
Terri H. Beaty (9033168)
Azeez Butali (7410884)
Carmen J. Buxó (10576121)
Lord J.J. Gowans (7410833)
Jacqueline T. Hecht (8605047)
Ross E. Long (10176353)
Lina Moreno (134602)
Jeffrey C. Murray (7410881)
Ieda M. Orioli (10576118)
Carmencita Padilla (10576112)
George L. Wehby (9670086)
Eleanor Feingold (10018)
Elizabeth J. Leslie-Clarkson (20772341)
Seth M. Weinberg (8605056)
Mary L. Marazita (8605059)
John R. Shaffer (9031025)
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author_facet Jenna C. Carlson (3950024)
Xinyi Zhang (36040)
Zeynep Erdogan-Yildirim (22339770)
Terri H. Beaty (9033168)
Azeez Butali (7410884)
Carmen J. Buxó (10576121)
Lord J.J. Gowans (7410833)
Jacqueline T. Hecht (8605047)
Ross E. Long (10176353)
Lina Moreno (134602)
Jeffrey C. Murray (7410881)
Ieda M. Orioli (10576118)
Carmencita Padilla (10576112)
George L. Wehby (9670086)
Eleanor Feingold (10018)
Elizabeth J. Leslie-Clarkson (20772341)
Seth M. Weinberg (8605056)
Mary L. Marazita (8605059)
John R. Shaffer (9031025)
author_role author
dc.creator.none.fl_str_mv Jenna C. Carlson (3950024)
Xinyi Zhang (36040)
Zeynep Erdogan-Yildirim (22339770)
Terri H. Beaty (9033168)
Azeez Butali (7410884)
Carmen J. Buxó (10576121)
Lord J.J. Gowans (7410833)
Jacqueline T. Hecht (8605047)
Ross E. Long (10176353)
Lina Moreno (134602)
Jeffrey C. Murray (7410881)
Ieda M. Orioli (10576118)
Carmencita Padilla (10576112)
George L. Wehby (9670086)
Eleanor Feingold (10018)
Elizabeth J. Leslie-Clarkson (20772341)
Seth M. Weinberg (8605056)
Mary L. Marazita (8605059)
John R. Shaffer (9031025)
dc.date.none.fl_str_mv 2025-09-30T18:00:31Z
dc.identifier.none.fl_str_mv 10.1371/journal.pgen.1011581.t002
dc.relation.none.fl_str_mv https://figshare.com/articles/dataset/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_11_Columns_include_source_term_name_GO_id_and_adju/30250163
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv 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
dc.title.none.fl_str_mv 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.
dc.type.none.fl_str_mv Dataset
info:eu-repo/semantics/publishedVersion
dataset
description <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.1011581.ref016" target="_blank">16</a>]. 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>
eu_rights_str_mv openAccess
id Manara_cab255f93fb2202c1e7fbc04e541bbaa
identifier_str_mv 10.1371/journal.pgen.1011581.t002
network_acronym_str Manara
network_name_str ManaraRepo
oai_identifier_str oai:figshare.com:article/30250163
publishDate 2025
repository.mail.fl_str_mv
repository.name.fl_str_mv
repository_id_str
rights_invalid_str_mv CC BY 4.0
spelling 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.Jenna C. Carlson (3950024)Xinyi Zhang (36040)Zeynep Erdogan-Yildirim (22339770)Terri H. Beaty (9033168)Azeez Butali (7410884)Carmen J. Buxó (10576121)Lord J.J. Gowans (7410833)Jacqueline T. Hecht (8605047)Ross E. Long (10176353)Lina Moreno (134602)Jeffrey C. Murray (7410881)Ieda M. Orioli (10576118)Carmencita Padilla (10576112)George L. Wehby (9670086)Eleanor Feingold (10018)Elizabeth J. Leslie-Clarkson (20772341)Seth M. Weinberg (8605056)Mary L. Marazita (8605059)John R. Shaffer (9031025)GeneticsMolecular BiologyBiotechnologyEvolutionary BiologyDevelopmental BiologyCancerMental HealthInfectious DiseasesVirologypreviously reported signalpotential regulatory effectsoffer new cluesnovel association withinnonsyndromic orofacial cleftsembryonic facial developmentcraniofacial enhancer activitybiological processes resultlead variant rs77075754lead variant rs584402lead variant rs4735314lead variant rs17168118three cohorts totalingobserved novel associationnewly reported lociisolated cleft lipenvironmental risk factorsfive ofc phenotypesgenes also overlappeddiv >< porofacial cleft riskidentify novel ofcwithout cleft palatexlink "> clxlink ">also observedrisk locirisk genesintronic variantintergenic variantofc riskthree regionsidentify subtypeknown ofcwide multiwell characterizedtissue twastanc2 </specific signalsrbfox1 </performed multip ],ntn1 </molecular mechanismsmaximize powermajor hurdlegrouped typesesrp1 </cald1 </ancestry study<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.1011581.ref016" target="_blank">16</a>]. 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>2025-09-30T18:00:31ZDatasetinfo:eu-repo/semantics/publishedVersiondataset10.1371/journal.pgen.1011581.t002https://figshare.com/articles/dataset/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_11_Columns_include_source_term_name_GO_id_and_adju/30250163CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/302501632025-09-30T18:00:31Z
spellingShingle 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.
Jenna C. Carlson (3950024)
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
status_str publishedVersion
title 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.
title_full 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.
title_fullStr 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.
title_full_unstemmed 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.
title_short 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.
title_sort 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.
topic 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