Results from genome-wide European ancestry meta-analysis for each independent lead variant demonstrating genome-wide significance (p < 5e-8) in at least one phenotype.

Results from genome-wide European ancestry meta-analysis for each independent lead variant demonstrating genome-wide significance (p < 5e-8) in at least one phenotype.

<p>Columns include chromosome (Chr), position in hg38 (Pos), reference and alternate (effect) alleles (Ref/Alt), nearest gene, alternate allele frequency (AAF) average, standard error, and min/max across POFC1, POFC2, and GENEVA OFC, p-values and direction of effects for POFC1, POFC2, and GENE...

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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Jenna C. Carlson (3950024) (author)
مؤلفون آخرون:	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)
منشور في:	2025
الموضوعات:	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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مواد مشابهة

Results from genome-wide Central/South American ancestry meta-analysis for each independent lead variant demonstrating genome-wide significance (p < 5e-8) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Association results for all genome-wide significant variants (p < 5e-8) from all ancestry meta-analysis.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Association results for all genome-wide significant variants (p < 5e-8) from Central/South American ancestry meta-analysis.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from genome-wide all ancestry meta-analysis for each independent lead variant demonstrating genome-wide significance (p < 5e-8) in at least one phenotype. Columns include Chromosome (Chr), position (hg38), reference and alternate (effect) alleles (Ref/Alt), rsID, candidate gene (either the gene nearest the variant or a previously implicated risk gene), direction of effect (Dir) on any cleft for POFC1, POFC2, and GENEVA OFC, respectively (? indicates variant was not present in that study), and p-values and from meta-analysis across each phenotype definition.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

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.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Integrated genomic analysis of the association at 7q33 with cleft lip and palate (CLP).
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Integrated genomic analysis of the association at 1p36.32 with cleft lip (CLO).
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Integrated genomic analysis of the association at 8q22.1 with cleft lip and palate (CLP).
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Integrated genomic analysis of the association at 16p13.3 with cleft lip with or without cleft palate (CL/P).
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Sample size by phenotype and ancestry group.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Gene expression patterns from single-cell RNA sequencing of human craniofacial tissue [15] of four genes intersecting all ancestry GWAS and TWAS (<i>CALD1</i>, <i>ESRP1</i>, <i>NTN1</i>, and <i>TANC2</i>) (A) grouped by cell type and (B) grouped by Carnegie Stage (CS).
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Venn Diagram showing the number of genes significant in TWAS results for the five cleft types.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Significantly enriched Gene Ontology (GO) terms among the genes showing significant results in the ancestry-specific TWAS.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from African ancestry multi-tissue TWAS for each gene surpassing the significance threshold (p < 2.29e-6) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from Asian ancestry multi-tissue TWAS for each gene surpassing the significance threshold (p < 2.29e-6) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from Central/South American ancestry multi-tissue TWAS for each gene surpassing the significance threshold (p < 2.29e-6) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from European ancestry multi-tissue TWAS for each gene surpassing the significance threshold (p < 2.29e-6) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Results from all ancestry multi-tissue TWAS for each gene surpassing the significance threshold (p < 2.29e-6) in at least one phenotype.
حسب: Jenna C. Carlson (3950024)
منشور في: (2025)

Data Sheet 2_Burden of orofacial clefts from 1990–2021 at global, regional, and national levels.csv
حسب: Qinqin Ma (4224460)
منشور في: (2025)

Data Sheet 1_Burden of orofacial clefts from 1990–2021 at global, regional, and national levels.pdf
حسب: Qinqin Ma (4224460)
منشور في: (2025)

Attribute encoding is modulated by gaze shifts.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Neural signatures of attribute comparison in OFC.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

OFC neurons encode attributes relative to the focus of gaze.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Fixation patterns during multi-attribute choices.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Attributes encoded by OFC neurons.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Multi-attribute choice task.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Attribute encoding is modulated by gaze shifts in each subject.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

OFC neurons jointly and inversely encode attended attributes.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Simulated neurons encoding trial-wise attributes do not encode fixated attributes.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

OFC encoding of attributes in an attention-based reference frame.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

OFC encodes attended attributes, not attributes of an attended option.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Heterogeneity of single unit encoding.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Behavior is best fit by models with independent attributes.
حسب: Aster Q. Perkins (22008260)
منشور في: (2025)

Estimates of burden and QCI of orofacial clefts by World Bank income groups.
حسب: Ahmad Sofi-Mahmudi (10146725)
منشور في: (2025)

Fig 4 -
حسب: Ahmad Sofi-Mahmudi (10146725)
منشور في: (2025)

Global regions and countries listed in descending order based on their QCIs in 2019.
حسب: Ahmad Sofi-Mahmudi (10146725)
منشور في: (2025)

Fig 2 -
حسب: Ahmad Sofi-Mahmudi (10146725)
منشور في: (2025)

The temporal trend of the age-standardized QCI for orofacial clefts, presented as a percentage, is depicted for both genders from 1990 to 2019.
حسب: Ahmad Sofi-Mahmudi (10146725)
منشور في: (2025)

The average true and false positive rate of individual variants detection in different median MAF ranges for variants that were polymorphic across 500 datasets with different sample sizes.
حسب: Duo Yu (4243240)
منشور في: (2024)

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