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Epigenome-Wide Association Studies Methods and Protocols
This volume details features of DNA methylation data, data processing pipelines, quality control measures, data normalization, and to discussions of...
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Cross-ancestry genome-wide association studies of brain imaging phenotypes
Genome-wide association studies of brain imaging phenotypes are mainly performed in European populations, but other populations are severely...
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Public platform with 39,472 exome control samples enables association studies without genotype sharing
Acquiring a sufficiently powered cohort of control samples matched to a case sample can be time-consuming or, in some cases, impossible. Accordingly,...
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Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies
Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic association studies, LD is often modeled using large...
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PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies
Despite the abundance of genotype-phenotype association studies, the resulting association outcomes often lack robustness and interpretations. To...
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Genome-wide association testing in malaria studies in the presence of overdominance
BackgroundIn human genetics, heterozygote advantage (heterosis) has been detected in studies that focused on specific genes but not in genome-wide...
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Microbiome epidemiology and association studies in human health
Studies of the human microbiome share both technical and conceptual similarities with genome-wide association studies and genetic epidemiology....
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Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits
Many methods have been developed to leverage expression quantitative trait loci (eQTL) data to nominate candidate genes from genome-wide association...
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Gene selection by incorporating genetic networks into case-control association studies
Large-scale genome-wide association studies (GWAS) have been successfully applied to a wide range of genetic variants underlying complex diseases....
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Investigating neonatal health risk variables through cell-type specific methylome-wide association studies
Adverse neonatal outcomes are a prevailing risk factor for both short- and long-term mortality and morbidity in infants. Given the importance of...
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Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks
Within population biobanks, incomplete measurement of certain traits limits the power for genetic discovery. Machine learning is increasingly used to...
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MESuSiE enables scalable and powerful multi-ancestry fine-map** of causal variants in genome-wide association studies
Fine-map** in genome-wide association studies attempts to identify causal SNPs from a set of candidate SNPs in a local genomic region of interest...
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Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits
Genome-wide association studies have led to the identification of robust statistical associations of genetic variants with numerous brain-related...
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Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores
Genome-wide association studies (GWASs) have been mostly conducted in populations of European ancestry, which currently limits the transferability of...
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Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease
Common and rare variants in the LRRK2 locus are associated with Parkinson’s disease (PD) risk, but the downstream effects of these variants on...
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Meta-Analysis for Epigenome-Wide Association Studies
With the rapid development of methylation profiling technology, many datasets are generated to quantify genome-wide methylation patterns. Given the...
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Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status
BackgroundAlthough several transcriptome-wide association studies (TWASs) have been performed to identify genes associated with overall breast cancer...
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An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics
Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human traits or diseases in the past decade....
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The association between red, processed and white meat consumption and risk of pancreatic cancer: a meta-analysis of prospective cohort studies
PurposeThe association between meat consumption and the risk of pancreatic cancer has not been comprehensively investigated by different types of...
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Toll-like receptor 9 (-1237 T/C, -1486 T/C) and the risk of gastric cancer: a meta-analysis of genetic association studies
BackgroundGastric cancer has a complex aetiology including genetic factors. Individual case-control studies of toll like receptor (TLR) 9 (-1237 T/C,...
