Search Results - "ASHLEY, Euan"
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Towards precision medicine
Published in Nature reviews. Genetics (01-09-2016)“…Key Points Precision medicine describes the definition of disease at a higher resolution by genomic and other technologies to enable more precise targeting of…”
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The Precision Medicine Initiative: A New National Effort
Published in JAMA : the journal of the American Medical Association (02-06-2015)“…Ashley talks about the precision medicine initiative. He also discusses the treatment of cystic fibrosis with ivacaftor, an example of precision medicine…”
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Cardiovascular disease: The rise of the genetic risk score
Published in PLoS medicine (30-03-2018)“…In a Perspective, Joshua Knowles and Euan Ashley discuss the potential for use of genetic risk scores in clinical practice…”
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Artificial Intelligence in Molecular Medicine
Published in The New England journal of medicine (29-06-2023)“…Machine-learning methods for analyzing genomic, transcriptomic, epigenomic, proteomic, and metabolomic data sets have yielded clinically directive information,…”
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Deep Learning Automates the Quantitative Analysis of Individual Cells in Live-Cell Imaging Experiments
Published in PLoS computational biology (01-11-2016)“…Live-cell imaging has opened an exciting window into the role cellular heterogeneity plays in dynamic, living systems. A major critical challenge for this…”
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Published in Genome medicine (28-02-2022)“…Rare diseases affect 30 million people in the USA and more than 300-400 million worldwide, often causing chronic illness, disability, and premature death…”
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Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association
Published in Circulation (New York, N.Y.) (23-08-2022)“…Cardiovascular disease is the leading contributor to years lost due to disability or premature death among adults. Current efforts focus on risk prediction and…”
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Video-based AI for beat-to-beat assessment of cardiac function
Published in Nature (London) (01-04-2020)“…Accurate assessment of cardiac function is crucial for the diagnosis of cardiovascular disease 1 , screening for cardiotoxicity 2 and decisions regarding the…”
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Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort
Published in Journal of personalized medicine (24-05-2017)“…The ability to measure physical activity through wrist-worn devices provides an opportunity for cardiovascular medicine. However, the accuracy of commercial…”
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Towards precision medicine in heart failure
Published in Nature reviews cardiology (01-11-2021)“…The number of therapies for heart failure (HF) with reduced ejection fraction has nearly doubled in the past decade. In addition, new therapies for HF caused…”
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The genetics of human performance
Published in Nature reviews. Genetics (01-01-2022)“…Human physiology is likely to have been selected for endurance physical activity. However, modern humans have become largely sedentary, with physical activity…”
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Informed Consent
Published in The New England journal of medicine (02-03-2017)“…An investigator obtaining informed consent traditionally asks participants to sign a written consent document — an approach that is becoming outdated. This…”
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Multi-task deep learning for cardiac rhythm detection in wearable devices
Published in NPJ digital medicine (09-09-2020)“…Wearable devices enable theoretically continuous, longitudinal monitoring of physiological measurements such as step count, energy expenditure, and heart rate…”
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Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells
Published in Cell stem cell (03-01-2013)“…Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac death. While the causes of HCM…”
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Deep learning interpretation of echocardiograms
Published in NPJ digital medicine (24-01-2020)“…Echocardiography uses ultrasound technology to capture high temporal and spatial resolution images of the heart and surrounding structures, and is the most…”
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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Published in Circulation (New York, N.Y.) (02-10-2018)“…BACKGROUND:A better understanding of the factors that contribute to heterogeneous outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is…”
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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
Published in PLoS genetics (08-04-2016)“…Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small…”
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Molecular Choreography of Acute Exercise
Published in Cell (28-05-2020)“…Acute physical activity leads to several changes in metabolic, cardiovascular, and immune pathways. Although studies have examined selected changes in these…”
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Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
Published in Scientific reports (24-04-2018)“…We performed a large genome-wide association study to discover genetic variation associated with muscular strength, and to evaluate shared genetic aetiology…”
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Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry
Published in Circulation (New York, N.Y.) (28-04-2020)“…The term "end stage" has been used to describe hypertrophic cardiomyopathy (HCM) with left ventricular systolic dysfunction (LVSD), defined as occurring when…”
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