Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences

10.1038/79981 ◽  
2000 ◽  
Vol 26 (2) ◽  
pp. 233-236 ◽  
Author(s):  
Kris Irizarry ◽  
Vlad Kustanovich ◽  
Cheng Li ◽  
Nik Brown ◽  
Stanley Nelson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide

Genome-wide analysis of single nucleotide polymorphisms in Bordetella pertussis using comparative genomic sequencing

2008 ◽  
Vol 159 (9-10) ◽  
pp. 602-608 ◽  
Author(s):  
Ram P. Maharjan ◽  
Chong Gu ◽  
Peter R. Reeves ◽  
Vitali Sintchenko ◽  
Gwendolyn L. Gilbert ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Bordetella Pertussis ◽  
Comparative Genomic ◽  
Genomic Sequencing ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide

scholarly journals Genome-wide analysis of thyroid function in Australian adolescents highlights SERPINA7 and NCOA3

2021 ◽  
Author(s):  
James Nolan ◽  
Purdey J Campbell ◽  
Suzanne J Brown ◽  
Gu Zhu ◽  
Scott Gordon ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Thyroid Function ◽  
Association Analysis ◽  
Genetic Factors ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome

Objective Genetic factors underpin the narrow intraindividual variability of thyroid function, although precise contributions of environmental versus genetic factors remain uncertain. We sought to clarify the heritability of thyroid function traits and thyroid peroxidase antibody (TPOAb) positivity and identify single nucleotide polymorphisms (SNPs) contributing to the trait variance. Methods Heritability of thyroid stimulating hormone (TSH), free T4 (fT4), free T3 (fT3) and TPOAb in a cohort of 2854 euthyroid, dizygous and monozygous twins (age range 11.9-16.9 years) from the Brisbane Longitudinal Twin Study (BLTS) was assessed using structural equation modelling. A genome-wide analysis was conducted on 2832 of these individuals across 7,522,526 single nucleotide polymorphisms as well as gene-based association analyses. Replication analysis of the association results was performed in the Raine Study (n= 1115) followed by meta-analysis to maximise power for discovery. Results Heritability of thyroid function parameters in the BLTS was 70.8% (95% CI: 66.7-74.9%) for TSH, 67.5% (59.8-75.3%) for fT4, 59.7% (54.4-65.0%) for fT3 and 48.8% (40.6-56.9%) for TPOAb. The genome-wide association study (GWAS) in the discovery cohort identified a novel association between rs2026401 upstream of NCOA3 and TPOAb. GWAS meta-analysis found associations between TPOAb and rs445219, also near NCOA3, and fT3 and rs12687280 near SERPINA7. Gene-based association analysis highlighted SERPINA7 for fT3 and NPAS3 for fT4. Conclusion Our findings resolve former contention regarding heritability estimates of thyroid function traits and TPOAb positivity. GWAS and gene-based association analysis identified variants accounting for a component of this heritability.

scholarly journals Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds

BMC Genomics ◽  
2013 ◽  
Vol 14 (1) ◽  
pp. 784 ◽  
Author(s):  
Katie E Fowler ◽  
Ricardo Pong-Wong ◽  
Julien Bauer ◽  
Emily J Clemente ◽  
Christopher P Reitter ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Copy Number ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Pig Breeds ◽  
Genome Wide

scholarly journals Genome-Wide Analysis of MicroRNA-related Single Nucleotide Polymorphisms (SNPs) in Mouse Genome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Gideon Omariba ◽  
Fuyi Xu ◽  
Maochun Wang ◽  
Kai Li ◽  
Yuxun Zhou ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mouse Genome ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide

scholarly journals Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

PLoS ONE ◽  
2008 ◽  
Vol 3 (10) ◽  
pp. e3519 ◽  
Author(s):  
Elina Salmela ◽  
Tuuli Lappalainen ◽  
Ingegerd Fransson ◽  
Peter M. Andersen ◽  
Karin Dahlman-Wright ◽  
...  
Keyword(s):  
Population Structure ◽  
Single Nucleotide Polymorphisms ◽  
Northern Europe ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide
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