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Showing 1 to 6 of 6 for “"GWAS Catalog"”.
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Bayesian Network Modeling and Inference of GWAS Catalog
<p>Genome-wide association studies (GWASs) have received an increasing attention to understand genotype-phenotype relationships. The Bayesian network has been proposed as a powerful tool for modeling single-nucleotide polymorphism (SNP)-trait associations due to its advantage in addressing the high …
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EVIDENCE EVALUATION IN BIOMEDICAL KNOWLEDGE GRAPHS FOR PHARMACEUTICAL DISCOVERY
… learning engine, (2) TIGA: Target illumination GWAS analytics, and (3) KGAP: Knowledge graph analytics platform. Badapple employs empirical bioassay data from PubChem and the NIH Molecular Libraries Program to recognize patterns of promiscuity (non-selectivity), associated with molecular …
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Germline variants associated with alternative splicing in colonic mucosa
… for only ~5% of all CRC cases. The majority of GWASidentified risk SNPs for CRC fall within non-coding regions, and the mechanisms by which the majority of these variants contribute to disease predisposition are yet to be elucidated. However, recent studies have highlighted the contribution of …
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Japanese courage: a genetic analysis of complex traits in medaka fish and humans
… to compare and rank all complex traits in the GWAS Catalog based on the extent to which their associated alleles vary across global populations, using the Fixation Index (FST) as a metric, and the 1000 Genomes dataset as a sample of global genetic variation. I set out the bioinformatic …
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Pharmacogenomics and pharmacokinetics of dolutegravir and tenofovir in Southern Africans living with HIV
… genome-wide association with any trait in the GWAS catalog, IFNL4 rs12979860 T>C was significantly associated with increased tenofovir clearance (TAF: P = 0.003; TDF: P = 0.003). In genome-wide analyses, the lowest P-values for tenofovir clearance in the TAF and TDF arms were with LINC01684 …
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Disease population genetic simulation framework: towards application in modelling disease risk prediction and heritability rate
… since the first genome-wide association study (GWAS) was conducted. The field has since experienced monumental strides, as evidenced by over half a million associations submitted in the GWAS catalog today, advancements in sequencing technologies, and the development of robust methodologies for …