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Research and Health systems

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18 papers 0 to 25 followers
Seema Mital, Kiran Musunuru, Vidu Garg, Mark W Russell, David E Lanfear, Rajat M Gupta, Kathleen T Hickey, Michael J Ackerman, Marco V Perez, Dan M Roden, Daniel Woo, Caroline S Fox, Stephanie Ware
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged...
September 26, 2016: Circulation. Cardiovascular Genetics
Joris Robert Vermeesch, Thierry Voet, Koenraad Devriendt
The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders...
September 15, 2016: Nature Reviews. Genetics
Barack Obama
IMPORTANCE: The Affordable Care Act is the most important health care legislation enacted in the United States since the creation of Medicare and Medicaid in 1965. The law implemented comprehensive reforms designed to improve the accessibility, affordability, and quality of health care. OBJECTIVES: To review the factors influencing the decision to pursue health reform, summarize evidence on the effects of the law to date, recommend actions that could improve the health care system, and identify general lessons for public policy from the Affordable Care Act...
August 2, 2016: JAMA: the Journal of the American Medical Association
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
No abstract text is available yet for this article.
October 2016: European Journal of Human Genetics: EJHG
Arjun K Manrai, Birgit H Funke, Heidi L Rehm, Morten S Olesen, Bradley A Maron, Peter Szolovits, David M Margulies, Joseph Loscalzo, Isaac S Kohane
BACKGROUND: For more than a decade, risk stratification for hypertrophic cardiomyopathy has been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely assess the risk of hypertrophic cardiomyopathy in a patient's relatives and diagnose the condition in patients who have ambiguous clinical presentations. However, the benefits of genetic testing come with the risk that variants may be misclassified. METHODS: Using publicly accessible exome data, we identified variants that have previously been considered causal in hypertrophic cardiomyopathy and that are overrepresented in the general population...
August 18, 2016: New England Journal of Medicine
Monya Baker
No abstract text is available yet for this article.
May 26, 2016: Nature
Laila C Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J Howlett, Anthony C Rupar, Joan H M Knoll, Peter Ainsworth, John S Waye, Bekim Sadikovic
Advances in next-generation sequencing (NGS) have facilitated parallel analysis of multiple genes enabling the implementation of cost-effective, rapid, and high-throughput methods for the molecular diagnosis of multiple genetic conditions, including the identification of BRCA1 and BRCA2 mutations in high-risk patients for hereditary breast and ovarian cancer. We clinically validated a NGS pipeline designed to replace Sanger sequencing and multiplex ligation-dependent probe amplification analysis and to facilitate detection of sequence and copy number alterations in a single test focusing on a BRCA1/BRCA2 gene analysis panel...
September 2016: Journal of Molecular Diagnostics: JMD
Shawn E Levy, Richard M Myers
The term next-generation sequencing is almost a decade old, but it remains the colloquial way to describe highly parallel or high-output sequencing methods that produce data at or beyond the genome scale. Since the introduction of these technologies, the number of applications and methods that leverage the power of genome-scale sequencing has increased at an exponential pace. This review highlights recent concepts, technologies, and methods from next-generation sequencing to illustrate the breadth and depth of the applications and research areas that are driving progress in genomics...
August 31, 2016: Annual Review of Genomics and Human Genetics
Jeffrey Staples, David J Witherspoon, Lynn B Jorde, Deborah A Nickerson, Jennifer E Below, Chad D Huff
Accurate estimation of shared ancestry is an important component of many genetic studies; current prediction tools accurately estimate pairwise genetic relationships up to the ninth degree. Pedigree-aware distant-relationship estimation (PADRE) combines relationship likelihoods generated by estimation of recent shared ancestry (ERSA) with likelihoods from family networks reconstructed by pedigree reconstruction and identification of a maximum unrelated set (PRIMUS), improving the power to detect distant relationships between pedigrees...
July 7, 2016: American Journal of Human Genetics
Jef D Boeke, George Church, Andrew Hessel, Nancy J Kelley, Adam Arkin, Yizhi Cai, Rob Carlson, Aravinda Chakravarti, Virginia W Cornish, Liam Holt, Farren J Isaacs, Todd Kuiken, Marc Lajoie, Tracy Lessor, Jeantine Lunshof, Matthew T Maurano, Leslie A Mitchell, Jasper Rine, Susan Rosser, Neville E Sanjana, Pamela A Silver, David Valle, Harris Wang, Jeffrey C Way, Luhan Yang
No abstract text is available yet for this article.
July 8, 2016: Science
Julio Saez-Rodriguez, James C Costello, Stephen H Friend, Michael R Kellen, Lara Mangravite, Pablo Meyer, Thea Norman, Gustavo Stolovitzky
The generation of large-scale biomedical data is creating unprecedented opportunities for basic and translational science. Typically, the data producers perform initial analyses, but it is very likely that the most informative methods may reside with other groups. Crowdsourcing the analysis of complex and massive data has emerged as a framework to find robust methodologies. When the crowdsourcing is done in the form of collaborative scientific competitions, known as Challenges, the validation of the methods is inherently addressed...
July 15, 2016: Nature Reviews. Genetics
Gerrit Frommeyer, Lars Eckardt
Drug-induced ventricular tachyarrhythmias can be caused by cardiovascular drugs, noncardiovascular drugs, and even nonprescription agents. They can result in arrhythmic emergencies and sudden cardiac death. If a new arrhythmia or aggravation of an existing arrhythmia develops during therapy with a drug at a concentration usually considered not to be toxic, the situation can be defined as proarrhythmia. Various cardiovascular and noncardiovascular drugs can increase the occurrence of polymorphic ventricular tachycardia of the 'torsade de pointes' type...
January 2016: Nature Reviews. Cardiology
Alexandre C Pereira
No abstract text is available yet for this article.
October 15, 2016: Heart: Official Journal of the British Cardiac Society
Marcio Sommer Bittencourt, Edward Hulten, Tamar S Polonsky, Udo Hoffman, Khurram Nasir, Suhny Abbara, Marcelo Di Carli, Ron Blankstein
BACKGROUND: The most appropriate score for evaluating the pretest probability of obstructive coronary artery disease (CAD) is unknown. We sought to compare the Diamond-Forrester (DF) score with the 2 CAD consortium scores recently recommended by the European Society of Cardiology. METHODS: We included 2274 consecutive patients (age, 56±13 years; 57% male) without prior CAD referred for coronary computed tomographic angiography. Computed tomographic angiography findings were used to determine the presence or absence of obstructive CAD (≥50% stenosis)...
July 19, 2016: Circulation
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T Bjornsson, Miriam Blitzer, Lisa C A D'Alessandro, Matthew A Deardorff, Laurie Demmer, Alison Elliott, Gerald L Feldman, Ian A Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne Hudgins, A Micheil Innes, Laird Jackson, Gail Jarvik, Raymond Kim, Bruce Korf, David H Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M Stephen Meyn, Nasim Monfared, Cynthia Morton, John J Mulvihill, Sharon E Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B Spinner, D James Stavropoulos, Kathleen Valverde, Darrel J Waggoner, Alisha Wilkens, Ronald D Cohn, Ian D Krantz
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients...
May 12, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Elizabeth Bass
No abstract text is available yet for this article.
June 7, 2016: Circulation
Mehri Karimi, Alexander M Clark
BACKGROUND: Values are central to ethical and effective nursing and health care. However, in relation to heart failure, an extremely common and burdensome syndrome, the role that patients' values have in influencing self-care is poorly understood. METHODS: A mixed methods systematic review was conducted using a critical meta-narrative synthesis approach to synthesizing qualitative and qualitized data. Nine databases were searched (14 March 2014). To be included in the review, studies had to contain data on heart failure patients' values and self-care behaviors, include adults aged ≥18 years with symptomatic heart failure, and be published ≥2000 as full articles or theses...
July 2016: International Journal of Nursing Studies
Daniel Sarewitz
No abstract text is available yet for this article.
May 12, 2016: Nature
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