Peter Donnelly
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View article: Quality of life and patient reported outcomes in the UK Mammo-50 randomised trial of annual versus less frequent mammographic surveillance in people with breast cancer aged 50 years and over
Quality of life and patient reported outcomes in the UK Mammo-50 randomised trial of annual versus less frequent mammographic surveillance in people with breast cancer aged 50 years and over Open
Background Mammo-50, a randomised phase III trial, demonstrated that for women aged 50 years or older and 3-years post breast cancer diagnosis, less frequent mammograms (2-yearly after conservation surgery; 3-yearly after a mastectomy) wer…
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: The Diagnosis of Mucormycosis by PCR: A Systematic Review and Meta-Analysis
The Diagnosis of Mucormycosis by PCR: A Systematic Review and Meta-Analysis Open
View article: Characterization of meiotic recombination intermediates through gene knockouts in founder hybrid mice
Characterization of meiotic recombination intermediates through gene knockouts in founder hybrid mice Open
Mammalian meiotic recombination proceeds via repair of hundreds of programmed DNA double-strand breaks, which requires choreographed binding of RPA, DMC1, and RAD51 to single-stranded DNA substrates. High-resolution in vivo binding maps of…
View article: Genotyping and population characteristics of the China Kadoorie Biobank
Genotyping and population characteristics of the China Kadoorie Biobank Open
View article: Development of the HT&Me intervention to support women with breast cancer to adhere to adjuvant endocrine therapy and improve quality of life
Development of the HT&Me intervention to support women with breast cancer to adhere to adjuvant endocrine therapy and improve quality of life Open
View article: 2022 William Allan Award
2022 William Allan Award Open
View article: PCR on Respiratory Tract Specimens of Immunocompromised Patients to Diagnose Pneumocystosis (PcP): A Systematic Review and Meta-Analysis
PCR on Respiratory Tract Specimens of Immunocompromised Patients to Diagnose Pneumocystosis (PcP): A Systematic Review and Meta-Analysis Open
View article: Economic instruments for obesity prevention: results of a scoping review and modified delphi survey
Economic instruments for obesity prevention: results of a scoping review and modified delphi survey Open
Background Comprehensive, multi-level approaches are required to address obesity. One important target for intervention is the economic domain. The purpose of this study was to synthesize existing evidence regarding the impact of economic …
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 …
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Contents Open
View article: Genotyping and population structure of the China Kadoorie Biobank
Genotyping and population structure of the China Kadoorie Biobank Open
Summary China Kadoorie Biobank is a population-based prospective cohort of >512,000 adults recruited in 2004-2008 from 10 geographically diverse regions across China. Detailed data from questionnaire and physical measurements were collecte…
View article: Altering the Binding Properties of PRDM9 Partially Restores Fertility across the Species Boundary
Altering the Binding Properties of PRDM9 Partially Restores Fertility across the Species Boundary Open
Sterility or subfertility of male hybrid offspring is commonly observed. This phenomenon contributes to reproductive barriers between the parental populations, an early step in the process of speciation. One frequent cause of such infertil…
View article: Economic instruments for obesity prevention: results of a scoping review and modified delphi survey
Economic instruments for obesity prevention: results of a scoping review and modified delphi survey Open
Background Comprehensive, multi-level approaches are required to address obesity. One important target for intervention is the economic domain. The purpose of this study was to synthesize existing evidence regarding the impact of economic …
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: 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: Platypus and echidna genomes reveal mammalian biology and evolution
Platypus and echidna genomes reveal mammalian biology and evolution Open
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: G215 Ecmo and audiological follow up in children
G215 Ecmo and audiological follow up in children Open
Introduction Children who have been supported with extracorporeal membrane oxygenation (ECMO) require follow-up including neurodevelopmental screening and audiological assessment. Hearing screening or audiometry is also included within the…
View article: ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair
ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair Open
During meiosis, homologous chromosomes pair and recombine, enabling balanced segregation and generating genetic diversity. In many vertebrates, double-strand breaks (DSBs) initiate recombination within hotspots where PRDM9 binds, and depos…
View article: Author response: ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair
Author response: ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract During meiosis, homologous ch…
View article: The Configuration of RPA, RAD51, and DMC1 Binding in Meiosis Reveals the Nature of Critical Recombination Intermediates
The Configuration of RPA, RAD51, and DMC1 Binding in Meiosis Reveals the Nature of Critical Recombination Intermediates Open
View article: ZCWPW1 is recruited to recombination hotspots by PRDM9, and is essential for meiotic double strand break repair
ZCWPW1 is recruited to recombination hotspots by PRDM9, and is essential for meiotic double strand break repair Open
During meiosis, homologous chromosomes pair (synapse) and recombine, enabling balanced segregation and generating genetic diversity. In many vertebrates, recombination initiates with double-strand breaks (DSBs) within hotspots where PRDM9 …
View article: P190 iPAD4 – improving paediatric airway documentation
P190 iPAD4 – improving paediatric airway documentation Open
Introduction and aims Intubation outwith the theatre environment is associated with higer risks than in-theatre intubation.1Patients admitted to the paediatric intensive care unit (PICU) may also have airway abnormalities making…