collection
https://read.qxmd.com/read/28408653/drug-induced-arrhythmias-precision-medicine-and-small-data
#1
EDITORIAL
Glenn I Fishman
No abstract text is available yet for this article.
April 2017: Circulation. Arrhythmia and Electrophysiology
https://read.qxmd.com/read/28383014/the-diy-electronics-transforming-research
#2
JOURNAL ARTICLE
Daniel Cressey
No abstract text is available yet for this article.
April 5, 2017: Nature
https://read.qxmd.com/read/28358109/gates-foundation-announces-open-access-publishing-venture
#3
JOURNAL ARTICLE
Declan Butler
No abstract text is available yet for this article.
March 23, 2017: Nature
https://read.qxmd.com/read/28277534/ibm-s-quantum-cloud-computer-goes-commercial
#4
Davide Castelvecchi
No abstract text is available yet for this article.
March 6, 2017: Nature
https://read.qxmd.com/read/27775721/the-brain-adapts-to-dishonesty
#5
JOURNAL ARTICLE
Neil Garrett, Stephanie C Lazzaro, Dan Ariely, Tali Sharot
Dishonesty is an integral part of our social world, influencing domains ranging from finance and politics to personal relationships. Anecdotally, digressions from a moral code are often described as a series of small breaches that grow over time. Here we provide empirical evidence for a gradual escalation of self-serving dishonesty and reveal a neural mechanism supporting it. Behaviorally, we show that the extent to which participants engage in self-serving dishonesty increases with repetition. Using functional MRI, we show that signal reduction in the amygdala is sensitive to the history of dishonest behavior, consistent with adaptation...
December 2016: Nature Neuroscience
https://read.qxmd.com/read/27786221/young-talented-and-fed-up-scientists-tell-their-stories
#6
COMMENT
Kendall Powell
No abstract text is available yet for this article.
October 27, 2016: Nature
https://read.qxmd.com/read/27806239/first-in-human-clinical-trials-what-we-can-learn-from-tragic-failures
#7
EDITORIAL
Sergio Bonini, Guido Rasi
On January 10, 2016, a healthy volunteer who had received 50 mg per day of a fatty acid amide hydrolase (FAAH) inhibitor for 5 days as part of a first-in-human phase 1 clinical trial was admitted to Rennes University Hospital with neurologic and gait disturbances. After a dramatic worsening of..
November 3, 2016: New England Journal of Medicine
https://read.qxmd.com/read/27604932/how-to-raise-a-genius-lessons-from-a-45-year-study-of-super-smart-children
#8
JOURNAL ARTICLE
Tom Clynes
No abstract text is available yet for this article.
September 8, 2016: Nature
https://read.qxmd.com/read/27787510/genome-variation-for-non-geneticists
#9
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
October 27, 2016: Nature Genetics
https://read.qxmd.com/read/27670630/further-evidence-that-remote-monitoring-is-cost-effective-it-s-time-for-all-to-adopt
#10
EDITORIAL
George H Crossley
No abstract text is available yet for this article.
January 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/27672144/enhancing-literacy-in-cardiovascular-genetics-a-scientific-statement-from-the-american-heart-association
#11
JOURNAL ARTICLE
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...
October 2016: Circulation. Cardiovascular Genetics
https://read.qxmd.com/read/27629932/prenatal-and-pre-implantation-genetic-diagnosis
#12
REVIEW
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
https://read.qxmd.com/read/27400401/united-states-health-care-reform-progress-to-date-and-next-steps
#13
REVIEW
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
https://read.qxmd.com/read/27628564/guidelines-for-diagnostic-next-generation-sequencing
#14
JOURNAL ARTICLE
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
https://read.qxmd.com/read/27532831/genetic-misdiagnoses-and-the-potential-for-health-disparities
#15
JOURNAL ARTICLE
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
https://read.qxmd.com/read/27225100/1-500-scientists-lift-the-lid-on-reproducibility
#16
Monya Baker
No abstract text is available yet for this article.
May 26, 2016: Nature
https://read.qxmd.com/read/27376475/clinical-next-generation-sequencing-pipeline-outperforms-a-combined-approach-using-sanger-sequencing-and-multiplex-ligation-dependent-probe-amplification-in-targeted-gene-panel-analysis
#17
JOURNAL ARTICLE
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
https://read.qxmd.com/read/27362342/advancements-in-next-generation-sequencing
#18
REVIEW
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
https://read.qxmd.com/read/27374771/padre-pedigree-aware-distant-relationship-estimation
#19
JOURNAL ARTICLE
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
https://read.qxmd.com/read/27256881/genome-engineering-the-genome-project-write
#20
JOURNAL ARTICLE
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
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