Michael E. Weale
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View article: A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release Open
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits that has been made available on the individuals in UKB, using a unified pipeline for PRS evaluation. We also releas…
View article: Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting
Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting Open
Background and Aims A cardiovascular disease polygenic risk score (CVD-PRS) can stratify individuals into different categories of cardiovascular risk, but whether the addition of a CVD-PRS to clinical risk scores improves the identificatio…
View article: A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting
A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting Open
Aims The aim of the study was to assess the real-world feasibility, acceptability, and impact of an integrated risk tool for cardiovascular disease (CVD IRT, combining the standard QRISK®2 risk algorithm with a polygenic risk score), imple…
View article: Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally Open
View article: Dense sampling of ethnic groups within African countries reveals fine-scale genetic structure and extensive historical admixture
Dense sampling of ethnic groups within African countries reveals fine-scale genetic structure and extensive historical admixture Open
Previous studies have highlighted how African genomes have been shaped by a complex series of historical events. Despite this, genome-wide data have only been obtained from a small proportion of present-day ethnolinguistic groups. By analy…
View article: Analysis of nucleus and cytoplasm-specific RNA fractions demonstrates that a significant proportion of the genetic regulation of gene expression across the human brain occurs post-transcriptionally
Analysis of nucleus and cytoplasm-specific RNA fractions demonstrates that a significant proportion of the genetic regulation of gene expression across the human brain occurs post-transcriptionally Open
Gaining insight into the genetic regulation of gene expression in human brain is key to the interpretation of genome-wide association studies for major neurological and neuropsychiatric diseases. Expression quantitative trait loci (eQTL) a…
View article: UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits Open
Summary-level GWAS data for 53 traits generated by Genomics plc as presented in: Thompson D. et al. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits (https://doi.org/10…
View article: UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits Open
Summary-level GWAS data for 53 traits generated by Genomics plc as presented in: Thompson D. et al. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits (https://doi.org/10…
View article: UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits Open
Summary-level GWAS data for 53 traits generated by Genomics plc as presented in: Thompson D. et al. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits (https://doi.org/10…
View article: UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits Open
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in UKB. We also release a benchmarking software tool to enable …
View article: <i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed Open
Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide …
View article: Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries
Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries Open
The American College of Cardiology / American Heart Association pooled cohort equations tool (ASCVD-PCE) is currently recommended to assess 10-year risk for atherosclerotic cardiovascular disease (ASCVD). ASCVD-PCE does not currently inclu…
View article: Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries
Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries Open
Summary-level coronary artery disease (CAD) and ischaemic stroke (IS) GWAS data generated by Genomics plc as presented in: Weale M. et al. Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovas…
View article: Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction Open
Background: There is considerable interest in whether genetic data can be used to improve standard cardiovascular disease risk calculators, as the latter are routinely used in clinical practice to manage preventative treatment. Methods: Us…
View article: Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries
Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries Open
Summary-level coronary artery disease (CAD) and ischaemic stroke (IS) GWAS data generated by Genomics plc as presented in: Weale M. et al. Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovas…
View article: An integrated polygenic tool substantially enhances coronary artery disease prediction
An integrated polygenic tool substantially enhances coronary artery disease prediction Open
Summary-level CAD GWAS data generated by Genomics plc as presented in: Riveros-Mckay F. et al. An integrated polygenic tool substantially enhances coronary artery disease prediction. Circulation: Genomics and Precision Medicine (in press).…
View article: An integrated polygenic tool substantially enhances coronary artery disease prediction
An integrated polygenic tool substantially enhances coronary artery disease prediction Open
Summary-level CAD GWAS data generated by Genomics plc as presented in: Riveros-Mckay F. et al. An integrated polygenic tool substantially enhances coronary artery disease prediction. Circulation: Genomics and Precision Medicine (in press).…
View article: Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies Open
Polymorphisms in the target mRNA sequence can greatly affect the binding affinity of microarray probe sequences, leading to false-positive and false-negative expression quantitative trait locus (QTL) signals with any other polymorphisms in…
View article: Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study
Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study Open
To evaluate systematically in real clinical settings whether functional genetic variations in drug metabolizing enzymes influence optimized doses, efficacy, and safety of antipsychotic medications.
View article: Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders Open
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, includin…
View article: An integrated polygenic and clinical risk tool enhances coronary artery disease prediction
An integrated polygenic and clinical risk tool enhances coronary artery disease prediction Open
Background There is considerable interest in whether genetic data can be used to improve standard cardiovascular disease risk calculators, as the latter are routinely used in clinical practice to manage preventative treatment. Methods This…
View article: Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders
Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders Open
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, includin…
View article: Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information
Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information Open
Genome-wide association studies have generated an increasing number of common genetic variants that affect neurological and psychiatric disease risk. Given that many causal variants are likely to operate by regulating gene expression, an i…
View article: Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy Open
Mesial temporal lobe epilepsy with hippocampal sclerosis represents the most common epilepsy syndrome in adult patients with medically intractable partial epilepsy. Mesial temporal lobe epilepsy is usually regarded as a polygenic and compl…
View article: The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population
The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population Open
View article: Phenome-wide association studies across large population cohorts support drug target validation
Phenome-wide association studies across large population cohorts support drug target validation Open
Summary-level data generated by Genomics plc as presented in: Diogo, D. et al. Phenome-wide association studies across large population cohorts support drug target validation. Nat. Commun. 9, 4285 (2018). https://doi.org/10.1038/s41467-018…
View article: Phenome-wide association studies across large population cohorts support drug target validation
Phenome-wide association studies across large population cohorts support drug target validation Open
Summary-level data generated by Genomics plc as presented in: Diogo, D. et al. Phenome-wide association studies across large population cohorts support drug target validation. Nat. Commun. 9, 4285 (2018). https://doi.org/10.1038/s41467-018…
View article: Phenome-wide association studies across large population cohorts support drug target validation
Phenome-wide association studies across large population cohorts support drug target validation Open
View article: The genetic determinants of renal allograft rejection
The genetic determinants of renal allograft rejection Open
View article: Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study
Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study Open