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Deriving GWAS summary estimates for paternal smoking in UK biobank: a GWAS by subtraction
ObjectiveTo use genome-wide association study (GWAS) by subtraction, a method for deriving novel GWASs from existing summary statistics, to derive...
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Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction
Little is known about the genetic architecture of traits affecting educational attainment other than cognitive ability. We used genomic structural...
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Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood...
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Integrative network analysis suggests prioritised drugs for atopic dermatitis
BackgroundAtopic dermatitis (AD) is a prevalent chronic inflammatory skin disease whose pathophysiology involves the interplay between genetic and...
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Trawling the Genome: Drug Target Identification in the Postgenomic Era
Drug discovery is the mainstay of the pharmaceutical industry. Despite the advent of technologies that enable a deep understanding of diseases at the...
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GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification
Conventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the...
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Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the diversity and the anatomical granularity of brain...
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Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study
The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world’s first...
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Characterizing dysregulations via cell-cell communications in Alzheimer’s brains using single-cell transcriptomes
BackgroundAlzheimer’s disease (AD) is a devastating neurodegenerative disorder affecting 44 million people worldwide, leading to cognitive decline,...
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Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms
Rupture of an intracranial aneurysm (IA) leads to aneurysmal subarachnoid haemorrhage (ASAH), a severe type of stroke. Some rare variants that cause...
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DNA methylation and 28-year cardiovascular disease risk in type 1 diabetes: the Epidemiology of Diabetes Complications (EDC) cohort study
BackgroundThe potential for DNA methylation (DNAm) as an early marker for cardiovascular disease (CVD) and how such an association might differ by...
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Estrogen-related receptor gamma regulates mitochondrial and synaptic genes and modulates vulnerability to synucleinopathy
Many studies implicate mitochondrial dysfunction as a key contributor to cell loss in Parkinson disease (PD). Previous analyses of dopaminergic...
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Association of the rs1344706 Polymorphism of the ZNF804A Gene with Induced EEG Rhythm Changes during Visual Perception of Verbal Stimuli in Healthy and Schizophrenic Subjects
The association of the rs1344706 polymorphism of the ZNF804A gene with EEG rhythm synchronization/ desynchronization parameters during the visual...
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Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing impairment (SNHI) or loss, and multidisciplinary studies of mouse...
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Nanomaterials for Precision Medicine
Precision medicine is characterized as the personalization of illness management with an emphasis on the genetic, environmental, and lifestyle...
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Genome assembly and genetic dissection of a prominent drought-resistant maize germplasm
In the context of climate change, drought is one of the most limiting factors that influence crop production. Maize, as a major crop, is highly...
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Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson’s Disease in Italian Patients
Parkinson’s disease (PD) represents the most common neurodegenerative movement disorder. We recently identified 16 novel genes associated with PD. In...
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Big Data in Stroke: How to Use Big Data to Make the Next Management Decision
The last decade has seen significant advances in the accumulation of medical data, the computational techniques to analyze that data, and...
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Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system
BackgroundThe rs72824905 single-nucleotide polymorphism in the PLCG2 gene, encoding the p.P522R residue change in Phospholipase C gamma 2 (PLCγ2),...
