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Single-nucleus multi-omics of Parkinson’s disease reveals a glutamatergic neuronal subtype susceptible to gene dysregulation via alteration of transcriptional networks
The genetic architecture of Parkinson’s disease (PD) is complex and multiple brain cell subtypes are involved in the neuropathological progression of...
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Epigenomic profiling of isolated blood cell types reveals highly specific B cell smoking signatures and links to disease risk
BackgroundTobacco smoking alters the DNA methylation profiles of immune cells which may underpin some of the pathogenesis of smoking-associated...
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Modeling the longitudinal changes of ancestry diversity in the Million Veteran Program
BackgroundThe Million Veteran Program (MVP) participants represent 100 years of US history, including significant social and demographic changes over...
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Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo
PurposeThe CYP2D6 gene exhibits significant polymorphism, contributing to variability in responses to drugs metabolized by CYP2D6. While CYP2D6*2 ...
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Detection of Transversions and Transitions in HBG2 Cis-Elements Associated with Sickle Cell Allele in Ghanaians
Short tandem repeats located 5ʹ prime to the β-globin gene, have been observed to be in linkage disequilibrium with the HbS allele, and thought to...
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Genomic variation in weedy and cultivated broomcorn millet accessions uncovers the genetic architecture of agronomic traits
Large-scale genomic variations are fundamental resources for crop genetics and breeding. Here we sequenced 1,904 genomes of broomcorn millet to an...
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Peroxisome Proliferator-Activated Receptor Gamma Pro12Ala/C161T Genotypes and Risky Haplotype Altering Risk of Breast Cancer: A Turkish Case–Control Study
Breast cancer (BC) has a high incidence rate among women worldwide, and the mechanisms and etiology of this disease are not yet fully understood. The...
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Specific Genetic Polymorphisms Contributing in Differential Binding of Gliadin Peptides to HLA-DQ and TCR to Elicit Immunogenicity in Celiac Disease
Immunogenicity of gliadin peptides in celiac disease (CD) is majorly determined by the pattern of molecular interactions with HLA-DQ and T-cell...
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of familial MD (FMD) has been...
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Improved functional map** of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets
While genome-wide association studies are increasingly successful in discovering genomic loci associated with complex human traits and disorders, the...
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The Interleukin-6 gene variants may protect against SARS-CoV-2 infection and the severity of COVID-19: a case-control study in a Moroccan population
The symptoms of SARS-CoV-2 infection vary widely, ranging from asymptomatic cases to severe forms marked by acute respiratory distress syndrome,...
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Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants
Amylase activity and levels in humans are heritable quantitative traits. Although many studies exist on the effects of copy-number variants (CNVs) in...
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Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid
Uterine fibroids (UF) are common pelvic tumors in women, heritable, and genome-wide association studies (GWAS) have identified ~ 30 loci associated...
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Variability of polygenic prediction for body mass index in Africa
BackgroundPolygenic prediction studies in continental Africans are scarce. Africa’s genetic and environmental diversity pose a challenge that limits...
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Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately...
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CARMA is a new Bayesian model for fine-map** in genome-wide association meta-analyses
Fine-map** is commonly used to identify putative causal variants at genome-wide significant loci. Here we propose a Bayesian model for fine-map**...
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Conditional transcriptome-wide association study for fine-map** candidate causal genes
Transcriptome-wide association studies (TWASs) aim to integrate genome-wide association studies with expression-map** studies to identify genes...
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Genetic diversity and population structure of Plasmodium falciparum in Nigeria: insights from microsatellite loci analysis
BackgroundMalaria remains a public health burden especially in Nigeria. To develop new malaria control and elimination strategies or refine existing...
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Lack of a protective effect of the Tmem106b “protective SNP” in the Grn knockout mouse model for frontotemporal lobar degeneration
Genetic variants in TMEM106B are a common risk factor for frontotemporal lobar degeneration and the most important modifier of disease risk in...
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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...
