Gotowe bibliografie tematyczne / GWAS replication

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  1. Artykuły w czasopismach
  2. Rozprawy doktorskie
  3. Części książek
  4. Streszczenia konferencji

Gotowa bibliografia na temat „GWAS replication”

Autor: Grafiati
Data publikacji: 3 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "GWAS replication"

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Carrasquillo, Minerva, Belbin Olivia, Hunter Talisha, et al. "P1-217: Replication of LOAD GWAS Associations." Alzheimer's & Dementia 7 (July 2011): S180—S181. http://dx.doi.org/10.1016/j.jalz.2011.05.496.

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Li, Jin, Qiushi Zhang, Feng Chen, et al. "Genetic Interactions Explain Variance in Cingulate Amyloid Burden: An AV-45 PET Genome-Wide Association and Interaction Study in the ADNI Cohort." BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/647389.

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Alzheimer’s disease (AD) is the most common neurodegenerative disorder. Using discrete disease status as the phenotype and computing statistics at the single marker level may not be able to address the underlying biological interactions that contribute to disease mechanism and may contribute to the issue of “missing heritability.” We performed a genome-wide association study (GWAS) and a genome-wide interaction study (GWIS) of an amyloid imaging phenotype, using the data from Alzheimer’s Disease Neuroimaging Initiative. We investigated the genetic main effects and interaction effects on cingul
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Jia, Yumeng, Xin Qi, Mei Ma, et al. "Integrating genome-wide association study with regulatory SNP annotations identified novel candidate genes for osteoporosis." Bone & Joint Research 12, no. 2 (2023): 147–54. http://dx.doi.org/10.1302/2046-3758.122.bjr-2022-0206.r1.

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AimsOsteoporosis (OP) is a metabolic bone disease, characterized by a decrease in bone mineral density (BMD). However, the research of regulatory variants has been limited for BMD. In this study, we aimed to explore novel regulatory genetic variants associated with BMD.MethodsWe conducted an integrative analysis of BMD genome-wide association study (GWAS) and regulatory single nucleotide polymorphism (rSNP) annotation information. Firstly, the discovery GWAS dataset and replication GWAS dataset were integrated with rSNP annotation database to obtain BMD associated SNP regulatory elements and S
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Joo, Jungnam, Ju-Hyun Park, Bora Lee, et al. "Robust Association Tests for the Replication of Genome-Wide Association Studies." BioMed Research International 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/461593.

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In genome-wide association study (GWAS), robust genetic association tests such as maximum of three CATTs (MAX3), each corresponding to recessive, additive, and dominant genetic models, the minimumpvalue of Pearson’s Chi-square test with 2 degrees of freedom, and CATT based on additive genetic model (MIN2), genetic model selection (GMS), and genetic model exclusion (GME) methods have been shown to provide better power performance under wide range of underlying genetic models. In this paper, we demonstrate how these robust tests can be applied to the replication study of GWAS and how the overall
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Barnekow, Elin, Wen Liu, Emil Andersson, et al. "A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk." PLOS ONE 20, no. 3 (2025): e0316086. https://doi.org/10.1371/journal.pone.0316086.

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Genome-wide association studies [GWAS] have identified a limited number of endometrial cancer risk loci by analyzing single nucleotide polymorphisms [SNPs]. We hypothesized that analyzing haplotypes rather than SNPs could provide novel and more detailed information on genetic cancer susceptibility loci. To examine the association of a SNP or haplotype with endometrial cancer risk we performed a two-stage haplotype GWAS. The discovery GWAS included a sub-cohort of 1,116 Swedish endometrial cancer cases and 5,021 controls from previously published GWAS data. A sliding window analysis was employe
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Sandoval-Plata, Gabriela, Kevin Morgan, and Abhishek Abhishek. "Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank." Annals of the Rheumatic Diseases 80, no. 9 (2021): 1220–26. http://dx.doi.org/10.1136/annrheumdis-2020-219796.

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ObjectivesTo perform a genome-wide association study (GWAS) of gout cases versus asymptomatic hyperuricaemia (AH) controls, and gout cases versus normouricaemia controls, and to generate a polygenic risk score (PRS) to determine gout-case versus AH-control status.MethodsGout cases and AH controls (serum urate (SU) ≥6.0 mg/dL) from the UK Biobank were divided into discovery (4934 cases, 56 948 controls) and replication (2115 cases, 24 406 controls) cohorts. GWAS was conducted and PRS generated using summary statistics in discovery cohort as the base dataset and the replication cohort as the tar
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Hubacek, Jaroslav A., Vera Adamkova, Vera Lanska, and Dana Dlouha. "Polygenous hypercholesterolemia. Replication of GWAS results on Czech slavonic population." Atherosclerosis 263 (August 2017): e226-e227. http://dx.doi.org/10.1016/j.atherosclerosis.2017.06.739.

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Fan, Xiaoping, Jing Wang, Wen Fan, et al. "Replication of Migraine GWAS Susceptibility Loci in Chinese Han Population." Headache: The Journal of Head and Face Pain 54, no. 4 (2014): 709–15. http://dx.doi.org/10.1111/head.12329.

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Okamoto, D., Y. Kakuta, N. Takeo, et al. "P822 Genetic analysis of ulcerative colitis in Japanese individuals using population-specific SNP array." Journal of Crohn's and Colitis 14, Supplement_1 (2020): S638—S639. http://dx.doi.org/10.1093/ecco-jcc/jjz203.950.

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Abstract Background Previous genome wide association studies (GWASs) have identified over 200 susceptibility loci for inflammatory bowel diseases (IBD), but studies in non-European population are limited. To clarify the genetic background of ulcerative colitis (UC) in the Japanese population, we conducted GWAS using a population specific SNP array (Japonica Array). Methods Discovery GWAS included 624 UC patients and 2004 healthy controls (HC) and replication study included 1075 UC patients and 419 HCs. We performed GWAS using a Japonica Array and the subsequent imputation with a Japanese popul
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Yu, Xinting, and Shisong Rong. "Genome-Wide Associations and Confirmatory Meta-Analyses in Diabetic Retinopathy." Genes 14, no. 3 (2023): 653. http://dx.doi.org/10.3390/genes14030653.

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The present study aimed to summarize and validate the genomic association signals for diabetic retinopathy (DR), proliferative DR, and diabetic macular edema/diabetic maculopathy. A systematic search of the genome-wide association study (GWAS) catalog and PubMed/MELINE databases was conducted to curate a comprehensive list of significant GWAS discoveries. The top signals were then subjected to meta-analysis using established protocols. The results indicate the need for improved consensus among DR GWASs, highlighting the importance of validation efforts. A subsequent meta-analysis confirmed the
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Rozprawy doktorskie na temat "GWAS replication"

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Gzara, Chaïma. "Génétique humaine de la lèpre au Vietnam : une histoire de familles." Electronic Thesis or Diss., Université Paris Cité, 2021. http://www.theses.fr/2021UNIP5234.

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La lèpre, maladie infectieuse chronique causée par Mycobacterium leprae, affecte principalement la peau, les nerfs et les yeux avec des séquelles majeures en l’absence de traitement. Avec 200 000 nouveaux cas diagnostiqués chaque année (1 toutes les 2 minutes), il s’agit de la mycobactériose la plus commune après la tuberculose et requalifiée « maladie tropicale négligée » en 2017 par l’Organisation Mondiale de la Santé (OMS). Si la contribution génétique de l’hôte dans l’histoire naturelle de la maladie est maintenant bien établie, son architecture reste lacunaire. Dans cette continuité et af
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Części książek na temat "GWAS replication"

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Abdallah, Sarah B., and Thomas V. Fernandez. "Genetic Susceptibility in Tourette Syndrome." In Tourette Syndrome, 2nd ed., edited by Sarah B. Abdallah and Thomas V. Fernandez. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197543214.003.0009.

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Abstract Early twin and family studies point to a significant genetic contribution to Tourette syndrome (TS). Informed by early segregation analyses in TS families pointing to a single-gene autosomal dominant inheritance pattern with partial penetrance, initial efforts at gene discovery in TS utilized parametric linkage analysis in large multigenerational families but failed to identify a single specific genetic locus. Later segregation analyses supported the current characterization of TS as a complex, genetically heterogeneous disorder. Nonparametric linkage analyses have yet to identify com
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Streszczenia konferencji na temat "GWAS replication"

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Pailoung, Chanunya, Pianpool Kamoljitprapa, and Sirikanlaya Sookkhee. "Optimization of Smoothing Parameters in Splines in GWAS Using a Replication Strategy." In 2024 Research, Invention, and Innovation Congress: Innovative Electricals and Electronics (RI2C). IEEE, 2024. https://doi.org/10.1109/ri2c64012.2024.10784419.

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Kocarnik, Jonathan D., Cara Carty, Yi Lin, et al. "Abstract 868: Replication of melanoma GWAS hits and exploration of pleiotropic effects of cancer GWAS hits with melanoma risk in the PAGE study." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-868.

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Elrayess, Mohamed, Fatima Al-Khelaifi, Noha Yousri, and Omar Al-Bagha. "Genome-Wide Association study Identifies a Novel Association Between a Cardiovascular Gene Polymorphism and Superior Athletic Performance." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0111.

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Research into the genetic predisposition to superior athletic performance has been a hindered by the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis. Results: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athl
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Nagrani, Rajini T., Sharayu Sitaram Mhatre, Rajendra Badwe, and Rajesh Dikshit. "Abstract 2795: Replicating GWAS SNPs for breast cancer in Indian population." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-2795.

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Tyurin, Anton, Daria Shapovalova, Luiza Lukmanova, Rashit Davletshin, and Rita Khusainova. "AB0019 REPLICATIVE STUDY OF GWAS-ASSOCIATED CANDIDATE GENE LOCI IN PATIENTS WITH OSTEOARTHRITIS FROM THE BASHKORTOSTAN REPUBLIC." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.5870.

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