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View article: GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis
GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis Open
Genome-wide association studies (GWAS) often aggregate data from millions of participants across multiple cohorts using meta-analysis to maximise power for genetic discovery. The increase in availability of genomic biobanks, together with …
View article: Balancing off-target and on-target considerations for optimized Cas9 CRISPR knockout library design
Balancing off-target and on-target considerations for optimized Cas9 CRISPR knockout library design Open
The continued development of high-dimensional CRISPR screen readouts, such as single-cell RNA sequencing and high-content imaging, necessitates compact libraries to enable functional interrogation at genome scale. Improved genome annotatio…
View article: A Tri-Character guided exact String-matching Algorithm for Efficient str detection In Forensic DNA Analysis
A Tri-Character guided exact String-matching Algorithm for Efficient str detection In Forensic DNA Analysis Open
The importance of string-matching algorithms in the world of modern DNA forensic technology cannot be over-stated. Short Tandem Repeats (STRs) play an important role in forensic DNA analysis due to their high variability among individuals.…
View article: Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores
Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores Open
Background: Polygenic risk scores (PRS) are rapidly being translated into clinical practice to estimate risk to health conditions and inform health management. However, the lack of clear guidelines for laboratory accreditation of PRS restr…
View article: Unsupervised Variant Clustering Identifies Genetic Subtypes of Disease
Unsupervised Variant Clustering Identifies Genetic Subtypes of Disease Open
Current approaches to identify disease subtypes rely on prior knowledge or external phenotypic references that limit their generalisability across traits. This study presents an unsupervised, phenotype- free framework that analyses the gen…
View article: “<i>Being proactive</i>”: A qualitative study of South Asian Australians perspectives of cardiovascular disease and genomic testing
“<i>Being proactive</i>”: A qualitative study of South Asian Australians perspectives of cardiovascular disease and genomic testing Open
Objectives Explore the health beliefs of South Asian Australians related to cardiovascular disease (CVD) and genomic testing for CVD Design, setting, participants Qualitative study using focus groups conducted between April to August 2023.…
View article: “There’s no representation”: A qualitative study of attitudes and motivations towards genomic research among South Asian Australians
“There’s no representation”: A qualitative study of attitudes and motivations towards genomic research among South Asian Australians Open
People of South Asian ancestry represent approximately up around 25% of the world’s population, yet constitute less than 2% of global genomic databases, limiting our ability to provide equitable genomic healthcare for this population. The …
View article: Antihypertensive drug classes and risk of incident dementia: a multinational population-based cohort study
Antihypertensive drug classes and risk of incident dementia: a multinational population-based cohort study Open
Background Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin-II receptor blockers (ARBs) are first-line antihypertensive drugs for many patients, and influencing angiotensin systems may play a role in dementia risk. This stu…
View article: Glycaemic variability underlies myocyte dysfunction and myocardial injury risk in diabetes
Glycaemic variability underlies myocyte dysfunction and myocardial injury risk in diabetes Open
Heart disease is the leading cause of morbidity and mortality in individuals with diabetes, due largely to risks associated with ischaemic injuries such as myocardial infarction (MI). We use human population genetic data to demonstrate tha…
View article: Revolutionizing Precision Medicine: Novel Strategies to Combat Multi-Drug Resistant Bacteria
Revolutionizing Precision Medicine: Novel Strategies to Combat Multi-Drug Resistant Bacteria Open
Introduction: MDR bacterial infections represent a substantial worldwide health problem that affects medical care quality. This investigation analyzes the performance of CRISPR-Cas9 gene editing and bacteriophage treatment and antimicrobia…
View article: Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases Open
BACKGROUND: Though epidemiological studies show increased cardiovascular disease (CVD) risks among individuals with psychiatric disorders, findings on sex differences in comorbidity have been inconsistent. METHODS: This genetic epidemiolog…
View article: Activity-based selection for enhanced base editor mutational scanning
Activity-based selection for enhanced base editor mutational scanning Open
Base editing is a CRISPR-based technology that enables high-throughput, nucleotide-level functional interrogation of the genome, which is essential for understanding the genetic basis of human disease and informing therapeutic development.…
View article: Epigenetic constraint of cellular genomes evolutionarily links genetic variation to function
Epigenetic constraint of cellular genomes evolutionarily links genetic variation to function Open
Cellular diversity is a product of evolution acting to drive divergent regulatory programs from a common genome. Here, we use cross-cell-type epigenetic conservation to gain insight into the impact of selective constraints on genome functi…
View article: Genomics for Improving Heart Failure Risk Assessment in Cancer Patients
Genomics for Improving Heart Failure Risk Assessment in Cancer Patients Open
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View article: CORRELATION ANALYSIS OF THE GLOBAL ACTIVITY LIMITATION INDICATOR WITH DISABILITY MEASURES IN ADULTS UNDER 65 SUFFERING FROM SPINAL AND HEPATIC HEALTH ISSUES
CORRELATION ANALYSIS OF THE GLOBAL ACTIVITY LIMITATION INDICATOR WITH DISABILITY MEASURES IN ADULTS UNDER 65 SUFFERING FROM SPINAL AND HEPATIC HEALTH ISSUES Open
Computer image processing technology has become essential for analyzing 2D and 3D spinal images in medical imaging. Deep learning algorithms have played a vital role in improving the accuracy of diagnosing spinal illnesses. This transition…
View article: Featured Cover
Featured Cover Open
Cover legends: The cover image is based on the Research Article Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain by Solal Chauquet et al., https://doi.org/10.1111/acel.14172 [Image: see text]
View article: Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain
Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain Open
Slowing and/or reversing brain ageing may alleviate cognitive impairments. Previous studies have found that exercise may mitigate cognitive decline, but the mechanisms underlying this remain largely unclear. Here we provide unbiased analys…
View article: Sex differences in long-term outcomes among hospitalized heart failure patients across the spectrum of ejection fraction: findings from the Get with the guidelines - heart failure registry
Sex differences in long-term outcomes among hospitalized heart failure patients across the spectrum of ejection fraction: findings from the Get with the guidelines - heart failure registry Open
Background Sex differences in 5-year outcomes across heart failure (HF) ejection fraction (EF) subtypes are not well known. Purpose To assess the interaction between sex and EF for risk of long-term adverse outcomes after hospitalization w…
View article: Sex differences in long‐term outcomes following acute heart failure hospitalization: Findings from the Get With The Guidelines‐Heart Failure registry
Sex differences in long‐term outcomes following acute heart failure hospitalization: Findings from the Get With The Guidelines‐Heart Failure registry Open
Aims Sex differences in long‐term outcomes following hospitalization for heart failure (HF) across ejection fraction (EF) subtypes are not well described. In this study, we evaluated the risk of mortality and rehospitalization among males …
View article: Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases Open
Background The lack of research on female-specific risk factors for cardiovascular diseases (CVD) has led to sex-based disparities in cardiovascular health. Though epidemiological studies show increased CVD risks amongst individuals with p…
View article: The genomics of heart failure: design and rationale of the HERMES consortium
The genomics of heart failure: design and rationale of the HERMES consortium Open
Aims The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results The consortium currently includes 51 studies from 11 countries…
View article: Comprehensive genetic analysis of the human lipidome identifies novel loci controlling lipid homeostasis with links to coronary artery disease
Comprehensive genetic analysis of the human lipidome identifies novel loci controlling lipid homeostasis with links to coronary artery disease Open
We integrated lipidomics and genomics to unravel the genetic architecture of lipid metabolism and identify genetic variants associated with lipid species that are putatively in the mechanistic pathway to coronary artery disease (CAD). We q…