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Limitations in next-generation sequencing-based genoty** of breast cancer polygenic risk score loci
Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer...
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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders
Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative...
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Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Migraine—a painful, throbbing headache disorder—is the most common complex brain disorder, yet its molecular mechanisms remain unclear. Genome-wide...
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Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified...
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Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most...
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A genetic Study of the Ghanaian Population Using 15 Autosomal STR Loci
Autosomal short tandem repeat (STR) population data collected from a well characterized population are needed to correctly assigning the weight of...
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Use of functional magnetic resonance imaging to identify cortical loci for lower limb movements and their efficacy for individuals after stroke
BackgroundIdentification of cortical loci for lower limb movements for stroke rehabilitation is crucial for better rehabilitation outcomes via...
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Integrating Omics and CRISPR Technology for Identification and Verification of Genomic Safe Harbor Loci in the Chicken Genome
BackgroundOne of the most prominent questions in the field of transgenesis is ‘Where in the genome to integrate a transgene?’. Escape from epigenetic...
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Androgen receptor-mediated pharmacogenomic expression quantitative trait loci: implications for breast cancer response to AR-targeting therapy
BackgroundEndocrine therapy is the most important treatment modality of breast cancer patients whose tumors express the estrogen receptor α (ERα)....
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Identification of specific susceptibility loci for the early-onset colorectal cancer
BackgroundThe incidence of early-onset colorectal cancer (EOCRC; patients < 50 years old) has been rising rapidly, whereas the EOCRC genetic...
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Cell-type-specific and disease-associated expression quantitative trait loci in the human lung
Common genetic variants confer substantial risk for chronic lung diseases, including pulmonary fibrosis. Defining the genetic control of gene...
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Shared genetic risk loci between Alzheimer’s disease and related dementias, Parkinson’s disease, and amyotrophic lateral sclerosis
BackgroundGenome-wide association studies (GWAS) have indicated moderate genetic overlap between Alzheimer’s disease (AD) and related dementias...
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Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases
In recent decades, upper gastrointestinal (GI) diseases have been highly prevalent worldwide. Although genome-wide association studies (GWASs) have...
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments....
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Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association...
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Discovery of 42 genome-wide significant loci associated with dyslexia
Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family...
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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic...
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Analysis of blood methylation quantitative trait loci in East Asians reveals ancestry-specific impacts on complex traits
Methylation quantitative trait loci (mQTLs) are essential for understanding the role of DNA methylation changes in genetic predisposition, yet they...
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Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus
BackgroundThe genetic basis of type 2 diabetes (T2D) is under-investigated in the Middle East, despite the rapidly growing disease prevalence. We...
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Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective
Comprehending the molecular basis of quantitative genetic variation is a principal goal for complex diseases or traits. Molecular quantitative trait...
