Search Results - "Ashley, Euan A"

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome by Marwaha, Shruti, Knowles, Joshua W, Ashley, Euan A

“…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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Cardiovascular disease: The rise of the genetic risk score by Knowles, Joshua W, Ashley, Euan A

“…In a Perspective, Joshua Knowles and Euan Ashley discuss the potential for use of genetic risk scores in clinical practice…”
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Deep Learning Automates the Quantitative Analysis of Individual Cells in Live-Cell Imaging Experiments by Van Valen, David A, Kudo, Takamasa, Lane, Keara M, Macklin, Derek N, Quach, Nicolas T, DeFelice, Mialy M, Maayan, Inbal, Tanouchi, Yu, Ashley, Euan A, Covert, Markus W

“…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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Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association by O’Sullivan, Jack W., Raghavan, Sridharan, Marquez-Luna, Carla, Luzum, Jasmine A., Damrauer, Scott M., Ashley, Euan A., O’Donnell, Christopher J., Willer, Cristen J., Natarajan, Pradeep

“…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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Multi-task deep learning for cardiac rhythm detection in wearable devices by Torres-Soto, Jessica, Ashley, Euan A.

“…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 by Lan, Feng, Lee, Andrew S., Liang, Ping, Sanchez-Freire, Veronica, Nguyen, Patricia K., Wang, Li, Han, Leng, Yen, Michelle, Wang, Yongming, Sun, Ning, Abilez, Oscar J., Hu, Shijun, Ebert, Antje D., Navarrete, Enrique G., Simmons, Chelsey S., Wheeler, Matthew, Pruitt, Beth, Lewis, Richard, Yamaguchi, Yoshinori, Ashley, Euan A., Bers, Donald M., Robbins, Robert C., Longaker, Michael T., Wu, Joseph C.

“…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 by Ghorbani, Amirata, Ouyang, David, Abid, Abubakar, He, Bryan, Chen, Jonathan H., Harrington, Robert A., Liang, David H., Ashley, Euan A., Zou, James Y.

“…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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Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank by Tikkanen, Emmi, Gustafsson, Stefan, Amar, David, Shcherbina, Anna, Waggott, Daryl, Ashley, Euan A., Ingelsson, Erik

“…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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Time trajectories in the transcriptomic response to exercise - a meta-analysis by Amar, David, Lindholm, Malene E., Norrbom, Jessica, Wheeler, Matthew T., Rivas, Manuel A., Ashley, Euan A.

“…Exercise training prevents multiple diseases, yet the molecular mechanisms that drive exercise adaptation are incompletely understood. To address this, we…”
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A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay by Seeger, Timon, Shrestha, Rajani, Lam, Chi Keung, Chen, Caressa, McKeithan, Wesley L, Lau, Edward, Wnorowski, Alexa, McMullen, George, Greenhaw, Matthew, Lee, Jaecheol, Oikonomopoulos, Angelos, Lee, Soah, Yang, Huaxiao, Mercola, Mark, Wheeler, Matthew, Ashley, Euan A, Yang, Fan, Karakikes, Ioannis, Wu, Joseph C

“…BACKGROUND:Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 (MYBPC3) resulting in a premature termination codon…”
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Towards precision medicine by Ashley, Euan A.

“…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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Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study by DeBoever, Christopher, Tanigawa, Yosuke, Lindholm, Malene E., McInnes, Greg, Lavertu, Adam, Ingelsson, Erik, Chang, Chris, Ashley, Euan A., Bustamante, Carlos D., Daly, Mark J., Rivas, Manuel A.

“…Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic…”
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Clinical Interpretation and Implications of Whole-Genome Sequencing by Dewey, Frederick E, Grove, Megan E, Pan, Cuiping, Goldstein, Benjamin A, Bernstein, Jonathan A, Chaib, Hassan, Merker, Jason D, Goldfeder, Rachel L, Enns, Gregory M, David, Sean P, Pakdaman, Neda, Ormond, Kelly E, Caleshu, Colleen, Kingham, Kerry, Klein, Teri E, Whirl-Carrillo, Michelle, Sakamoto, Kenneth, Wheeler, Matthew T, Butte, Atul J, Ford, James M, Boxer, Linda, Ioannidis, John P. A, Yeung, Alan C, Altman, Russ B, Assimes, Themistocles L, Snyder, Michael, Ashley, Euan A, Quertermous, Thomas

“…IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of…”
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Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks by Amar, David, Sinnott-Armstrong, Nasa, Ashley, Euan A., Rivas, Manuel A.

“…Causal inference via Mendelian randomization requires making strong assumptions about horizontal pleiotropy, where genetic instruments are connected to the…”
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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects by Priest, James R, Osoegawa, Kazutoyo, Mohammed, Nebil, Nanda, Vivek, Kundu, Ramendra, Schultz, Kathleen, Lammer, Edward J, Girirajan, Santhosh, Scheetz, Todd, Waggott, Daryl, Haddad, Francois, Reddy, Sushma, Bernstein, Daniel, Burns, Trudy, Steimle, Jeffrey D, Yang, Xinan H, Moskowitz, Ivan P, Hurles, Matthew, Lifton, Richard P, Nickerson, Debbie, Bamshad, Michael, Eichler, Evan E, Mital, Seema, Sheffield, Val, Quertermous, Thomas, Gelb, Bruce D, Portman, Michael, Ashley, Euan A

“…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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Challenges in the clinical application of whole-genome sequencing by Ormond, Kelly E, MSc, Wheeler, Matthew T, MD, Hudgins, Louanne, Prof, Klein, Teri E, PhD, Butte, Atul J, MD, Altman, Russ B, Prof, Ashley, Euan A, MRCP, Greely, Henry T, Prof

“…Since whole-genome sequencing will show that every patient has an above-average risk for some disorders, and for having children with some genetic diseases,…”
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Performance comparison of whole-genome sequencing platforms by Lam, Hugo Y K, Clark, Michael J, Chen, Rui, Chen, Rong, Natsoulis, Georges, O'Huallachain, Maeve, Dewey, Frederick E, Habegger, Lukas, Ashley, Euan A, Gerstein, Mark B, Butte, Atul J, Ji, Hanlee P, Snyder, Michael

“…Over 90% of human whole-genome sequencing has been performed using instruments from two companies, Illumina and Complete Genomics. Lam et al . sequence the…”
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The Precision Medicine Initiative: A New National Effort by Ashley, Euan A

“…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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Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy by Sun, Ning, Yazawa, Masayuki, Liu, Jianwei, Han, Leng, Sanchez-Freire, Veronica, Abilez, Oscar J, Navarrete, Enrique G, Hu, Shijun, Wang, Li, Lee, Andrew, Pavlovic, Aleksandra, Lin, Shin, Chen, Rui, Hajjar, Roger J, Snyder, Michael P, Dolmetsch, Ricardo E, Butte, Manish J, Ashley, Euan A, Longaker, Michael T, Robbins, Robert C, Wu, Joseph C

“…Characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure, dilated cardiomyopathy (DCM) is the most common form of…”
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Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis by Goldfeder, Rachel L, Wall, Dennis P, Khoury, Muin J, Ioannidis, John P A, Ashley, Euan A

“…Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health,…”
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