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https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#1
Xiaoming Zhang, Jin-Young Yoon, Michael Morley, Jared M McLendon, Kranti A Mapuskar, Rebecca Gutmann, Haider Mehdi, Heather L Bloom, Samuel C Dudley, Patrick T Ellinor, Alaa A Shalaby, Raul Weiss, W H Wilson Tang, Christine S Moravec, Madhurmeet Singh, Anne L Taylor, Clyde W Yancy, Arthur M Feldman, Dennis M McNamara, Kaikobad Irani, Douglas R Spitz, Patrick Breheny, Kenneth B Margulies, Barry London, Ryan L Boudreau
SCN5A encodes the voltage-gated Na+ channel NaV1.5 that is responsible for depolarization of the cardiac action potential and rapid intercellular conduction. Mutations disrupting the SCN5A coding sequence cause inherited arrhythmias and cardiomyopathy, and single-nucleotide polymorphisms (SNPs) linked to SCN5A splicing, localization, and function associate with heart failure-related sudden cardiac death. However, the clinical relevance of SNPs that modulate SCN5A expression levels remains understudied. We recently generated a transcriptome-wide map of microRNA (miR) binding sites in human heart, evaluated their overlap with common SNPs, and identified a synonymous SNP (rs1805126) adjacent to a miR-24 site within the SCN5A coding sequence...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29457214/maintenance-zinc-therapy-after-initial-penicillamine-chelation-to-treat-symptomatic-hepatic-wilson-s-disease-in-resource-constrained-setting
#2
Piyush Gupta, Mehul Choksi, Ashish Goel, Uday Zachariah, Kattiparambil Gangadharan Sajith, Jeyamani Ramachandran, George Chandy, George Kurian, Grace Rebekah, Chundamannil Eapen Eapen
BACKGROUND: Experience with zinc in treating symptomatic hepatic Wilson's disease (WD) is limited. AIM: To study the efficacy of Penicillamine followed by zinc in treating symptomatic hepatic Wilson's disease. METHODS: We retrospectively analyzed case records of 31 symptomatic hepatic WD patients for whom disease severity scores (Child's, model for end-stage liver disease (MELD), Nazer's, and New Wilson Index (NWI) score) and 24-h urinary copper were compared at 3-time points-baseline at presentation, at transition from penicillamine to zinc and at end of follow up...
February 19, 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29456920/evidence-based-analysis-of-adjacent-segment-degeneration-and-disease-after-lif-a-narrative-review
#3
Nikunj N Trivedi, Sean M Wilson, Luis A Puchi, Darren R Lebl
Study Design: Narrative review. Objectives: The etiology of adjacent segment degeneration (ASDeg) and adjacent segment disease (ASDz) after lumbar interbody fusion (LIF) remains controversial. The aim of this narrative review was to provide an evidence-based analysis of the peer-reviewed literature on clinical studies of ASDeg and ASDz after LIF. Methods: A review was performed utilizing Medline, Embase, and Cochrane databases. Two reviewers independently extracted relevant data from each included study...
February 2018: Global Spine Journal
https://www.readbyqxmd.com/read/29455858/a-large-scale-multi-ancestry-genome-wide-study-accounting-for-smoking-behavior-identifies-multiple-significant-loci-for-blood-pressure
#4
Yun J Sung, Thomas W Winkler, Lisa de Las Fuentes, Amy R Bentley, Michael R Brown, Aldi T Kraja, Karen Schwander, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Yingchang Lu, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K Musani, Changwei Li, Mary F Feitosa, Tuomas O Kilpeläinen, Melissa A Richard, Raymond Noordam, Stella Aslibekyan, Hugues Aschard, Traci M Bartz, Rajkumar Dorajoo, Yongmei Liu, Alisa K Manning, Tuomo Rankinen, Albert Vernon Smith, Salman M Tajuddin, Bamidele O Tayo, Helen R Warren, Wei Zhao, Yanhua Zhou, Nana Matoba, Tamar Sofer, Maris Alver, Marzyeh Amini, Mathilde Boissel, Jin Fang Chai, Xu Chen, Jasmin Divers, Ilaria Gandin, Chuan Gao, Franco Giulianini, Anuj Goel, Sarah E Harris, Fernando Pires Hartwig, Andrea R V R Horimoto, Fang-Chi Hsu, Anne U Jackson, Mika Kähönen, Anuradhani Kasturiratne, Brigitte Kühnel, Karin Leander, Wen-Jane Lee, Keng-Hung Lin, Jian 'an Luan, Colin A McKenzie, He Meian, Christopher P Nelson, Rainer Rauramaa, Nicole Schupf, Robert A Scott, Wayne H H Sheu, Alena Stančáková, Fumihiko Takeuchi, Peter J van der Most, Tibor V Varga, Heming Wang, Yajuan Wang, Erin B Ware, Stefan Weiss, Wanqing Wen, Lisa R Yanek, Weihua Zhang, Jing Hua Zhao, Saima Afaq, Tamuno Alfred, Najaf Amin, Dan Arking, Tin Aung, R Graham Barr, Lawrence F Bielak, Eric Boerwinkle, Erwin P Bottinger, Peter S Braund, Jennifer A Brody, Ulrich Broeckel, Claudia P Cabrera, Brian Cade, Yu Caizheng, Archie Campbell, Mickaël Canouil, Aravinda Chakravarti, Ganesh Chauhan, Kaare Christensen, Massimiliano Cocca, Francis S Collins, John M Connell, Renée de Mutsert, H Janaka de Silva, Stephanie Debette, Marcus Dörr, Qing Duan, Charles B Eaton, Georg Ehret, Evangelos Evangelou, Jessica D Faul, Virginia A Fisher, Nita G Forouhi, Oscar H Franco, Yechiel Friedlander, He Gao, Bruna Gigante, Misa Graff, C Charles Gu, Dongfeng Gu, Preeti Gupta, Saskia P Hagenaars, Tamara B Harris, Jiang He, Sami Heikkinen, Chew-Kiat Heng, Makoto Hirata, Albert Hofman, Barbara V Howard, Steven Hunt, Marguerite R Irvin, Yucheng Jia, Roby Joehanes, Anne E Justice, Tomohiro Katsuya, Joel Kaufman, Nicola D Kerrison, Chiea Chuen Khor, Woon-Puay Koh, Heikki A Koistinen, Pirjo Komulainen, Charles Kooperberg, Jose E Krieger, Michiaki Kubo, Johanna Kuusisto, Carl D Langefeld, Claudia Langenberg, Lenore J Launer, Benjamin Lehne, Cora E Lewis, Yize Li, Sing Hui Lim, Shiow Lin, Ching-Ti Liu, Jianjun Liu, Jingmin Liu, Kiang Liu, Yeheng Liu, Marie Loh, Kurt K Lohman, Jirong Long, Tin Louie, Reedik Mägi, Anubha Mahajan, Thomas Meitinger, Andres Metspalu, Lili Milani, Yukihide Momozawa, Andrew P Morris, Thomas H Mosley, Peter Munson, Alison D Murray, Mike A Nalls, Ubaydah Nasri, Jill M Norris, Kari North, Adesola Ogunniyi, Sandosh Padmanabhan, Walter R Palmas, Nicholette D Palmer, James S Pankow, Nancy L Pedersen, Annette Peters, Patricia A Peyser, Ozren Polasek, Olli T Raitakari, Frida Renström, Treva K Rice, Paul M Ridker, Antonietta Robino, Jennifer G Robinson, Lynda M Rose, Igor Rudan, Charumathi Sabanayagam, Babatunde L Salako, Kevin Sandow, Carsten O Schmidt, Pamela J Schreiner, William R Scott, Sudha Seshadri, Peter Sever, Colleen M Sitlani, Jennifer A Smith, Harold Snieder, John M Starr, Konstantin Strauch, Hua Tang, Kent D Taylor, Yik Ying Teo, Yih Chung Tham, André G Uitterlinden, Melanie Waldenberger, Lihua Wang, Ya X Wang, Wen Bin Wei, Christine Williams, Gregory Wilson, Mary K Wojczynski, Jie Yao, Jian-Min Yuan, Alan B Zonderman, Diane M Becker, Michael Boehnke, Donald W Bowden, John C Chambers, Yii-Der Ida Chen, Ulf de Faire, Ian J Deary, Tõnu Esko, Martin Farrall, Terrence Forrester, Paul W Franks, Barry I Freedman, Philippe Froguel, Paolo Gasparini, Christian Gieger, Bernardo Lessa Horta, Yi-Jen Hung, Jost B Jonas, Norihiro Kato, Jaspal S Kooner, Markku Laakso, Terho Lehtimäki, Kae-Woei Liang, Patrik K E Magnusson, Anne B Newman, Albertine J Oldehinkel, Alexandre C Pereira, Susan Redline, Rainer Rettig, Nilesh J Samani, James Scott, Xiao-Ou Shu, Pim van der Harst, Lynne E Wagenknecht, Nicholas J Wareham, Hugh Watkins, David R Weir, Ananda R Wickremasinghe, Tangchun Wu, Wei Zheng, Yoichiro Kamatani, Cathy C Laurie, Claude Bouchard, Richard S Cooper, Michele K Evans, Vilmundur Gudnason, Sharon L R Kardia, Stephen B Kritchevsky, Daniel Levy, Jeff R O'Connell, Bruce M Psaty, Rob M van Dam, Mario Sims, Donna K Arnett, Dennis O Mook-Kanamori, Tanika N Kelly, Ervin R Fox, Caroline Hayward, Myriam Fornage, Charles N Rotimi, Michael A Province, Cornelia M van Duijn, E Shyong Tai, Tien Yin Wong, Ruth J F Loos, Alex P Reiner, Jerome I Rotter, Xiaofeng Zhu, Laura J Bierut, W James Gauderman, Mark J Caulfield, Paul Elliott, Kenneth Rice, Patricia B Munroe, Alanna C Morrison, L Adrienne Cupples, Dabeeru C Rao, Daniel I Chasman
Genome-wide association analysis advanced understanding of blood pressure (BP), a major risk factor for vascular conditions such as coronary heart disease and stroke. Accounting for smoking behavior may help identify BP loci and extend our knowledge of its genetic architecture. We performed genome-wide association meta-analyses of systolic and diastolic BP incorporating gene-smoking interactions in 610,091 individuals. Stage 1 analysis examined ∼18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-up analysis of promising variants in 480,178 additional individuals from five ancestries...
February 13, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29455437/live-donor-liver-transplantation-for-acute-liver-failure-a-single-center-experience
#5
Siddharth Mehrotra, Naimish Mehta, Prashantha S Rao, Shailendra Lalwani, Vivek Mangla, Samiran Nundy
INTRODUCTION: Acute liver failure (ALF) is an indication for emergency liver transplantation (LT). Although centers performing only deceased donor liver transplants (DDLT) have shown improved outcomes in this situation, they still have relatively long waiting lists. An alternative would be living donor liver transplantation (LDLT), which has shown equivalent outcomes in the elective situation but there is limited evidence of its results in ALF. AIM: The purpose of this study was to assess the outcomes in patients with ALF undergoing emergency LDLT in our center in Delhi, India...
February 17, 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29452098/features-of-chronic-obstructive-pulmonary-disease-as-predictors-of-lung-cancer
#6
Laurie L Carr, Sean Jacobson, David A Lynch, Marilyn G Foreman, Eric L Flenaugh, Craig P Hersh, Frank C Sciurba, David O Wilson, Jessica C Sieren, Patrick Mulhall, Victor Kim, C Matthew Kinsey, Russell P Bowler
BACKGROUND: Lung cancer is a leading cause of death and hospitalization for patients with chronic obstructive lung disease, (COPD); a detailed understanding of which clinical features of COPD increase risk is needed. METHODS: To identify clinical and imaging features of smokers, with and without COPD, that are associated with an increased risk of lung cancer, we performed a nested case-control study of COPDGene subjects with and without lung cancer, age 45-80, who smoked at least 10-pack years...
February 13, 2018: Chest
https://www.readbyqxmd.com/read/29450741/utility-of-cardiac-computed-tomography-scanning-in-the-diagnosis-and-pre-operative-evaluation-of-patients-with-infective-endocarditis
#7
Jason R Sims, Nandan S Anavekar, Krishnaswamy Chandrasekaran, James M Steckelberg, Walter R Wilson, Bernard J Gersh, Larry M Baddour, Daniel C DeSimone
Transesophageal echocardiography (TEE) is the gold standard imaging study used in the diagnosis of infective endocarditis (IE). Computed tomography angiography (CTA) has undergone rapid advancement as a cardiac imaging technique and has previously shown promise in small non-randomized studies for evaluation of IE. We hypothesized that cardiac CTA would perform similarly to TEE in the detection of endocarditic lesions and that there would be no difference in clinical outcomes whether the coronary arteries were evaluated by CTA or invasive coronary angiography (ICA)...
February 15, 2018: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29449431/wilson-disease-more-than-meets-the-eye
#8
REVIEW
Claire Kelly, Marinos Pericleous
Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation...
February 15, 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29449189/adjuvant-chemoradiotherapy-versus-radiotherapy-alone-for-women-with-high-risk-endometrial-cancer-portec-3-final-results-of-an-international-open-label-multicentre-randomised-phase-3-trial
#9
Stephanie M de Boer, Melanie E Powell, Linda Mileshkin, Dionyssios Katsaros, Paul Bessette, Christine Haie-Meder, Petronella B Ottevanger, Jonathan A Ledermann, Pearly Khaw, Alessandro Colombo, Anthony Fyles, Marie-Helene Baron, Ina M Jürgenliemk-Schulz, Henry C Kitchener, Hans W Nijman, Godfrey Wilson, Susan Brooks, Silvestro Carinelli, Diane Provencher, Chantal Hanzen, Ludy C H W Lutgens, Vincent T H B M Smit, Naveena Singh, Viet Do, Romerai D'Amico, Remi A Nout, Amanda Feeney, Karen W Verhoeven-Adema, Hein Putter, Carien L Creutzberg
BACKGROUND: Although women with endometrial cancer generally have a favourable prognosis, those with high-risk disease features are at increased risk of recurrence. The PORTEC-3 trial was initiated to investigate the benefit of adjuvant chemotherapy during and after radiotherapy (chemoradiotherapy) versus pelvic radiotherapy alone for women with high-risk endometrial cancer. METHODS: PORTEC-3 was an open-label, international, randomised, phase 3 trial involving 103 centres in six clinical trials collaborating in the Gynaecological Cancer Intergroup...
February 12, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29449030/the-frequency-of-the-c9orf72-expansion-in-a-brazilian-population
#10
Vívian Pedigone Cintra, Luciana Cardoso Bonadia, Helen Maia T Andrade, Milena de Albuquerque, Mayara Ferreira Eusébio, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcus Vinicius Magno Gonçalves, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Leonardo Cruz de Souza, Mario Emilio Teixeira Dourado, Acary Souza Bulle Oliveira, Vitor Tumas, Marcondes C França, Wilson Marques
G 4 C 2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G 4 C 2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/motor neuron disease patients (11...
January 31, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29447335/condition-dependent-generation-of-aquaporin-4-antibodies-from-circulating-b-cells-in-neuromyelitis-optica
#11
Robert Wilson, Mateusz Makuch, Anne-Kathrin Kienzler, James Varley, Jennifer Taylor, Mark Woodhall, Jacqueline Palace, M Isabel Leite, Patrick Waters, Sarosh R Irani
Autoantibodies to aquaporin-4 (AQP4) are pathogenic in neuromyelitis optica spectrum disorder (NMOSD). However, it is not known which B cells are the major contributors to circulating AQP4 antibodies nor which conditions promote their generation. Our experiments showed CD19+CD27++CD38++ circulating ex vivo antibody-secreting cells did not produce AQP4 antibodies under several culture conditions. To question whether other cells in circulation were capable of AQP4 antibody production, B cells were differentiated into antibody-secreting cells in vitro...
February 13, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29443835/venous-thromboembolism-incidence-after-craniofacial-surgery
#12
Wilson I Omesiete, James A Walker, Jack C Yu
INTRODUCTION: Current protocols for venous thromboembolism (VTE) prophylaxis after craniofacial surgery (CFS) vary widely with substantial disagreements in both indications and managements. An evidence-based approach to this issue requires the following: the incidence of postoperative VTE, comorbidities associated with coagulopathy, risk reduction after VTE prophylaxis, and complications attributable to prophylaxis. This study addresses the first two. DESIGN: Retrospective cross-sectional study...
February 13, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29443425/long-term-atherosclerotic-vascular-disease-risk-and-prognosis-in-elderly-women-with-abdominal-aortic-calcification-on-lateral-spine-images-captured-during-bone-density-testing-a-prospective-study
#13
Joshua R Lewis, John T Schousboe, Wai H Lim, Germaine Wong, Kevin E Wilson, Kun Zhu, Peter L Thompson, Douglas P Kiel, Richard L Prince
Lateral spine images are captured using bone densitometers for vertebral fracture assessment (VFA) in older women. Abdominal aortic calcification (AAC) is commonly seen on these images however the long-term prognosis in women with AAC remains uncertain. In a prospective study of 1,052 community-dwelling ambulant Caucasian women over 70 years AAC24 scores were calculated from digital lateral spine images captured during bone density testing in 1998 or 1999. Cardiovascular risk factors were assessed in 1998 while 14...
February 14, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29442471/use-of-combined-inhalers-for-stable-chronic-obstructive-pulmonary-disease
#14
Amanda Wilson
The mission of the Cochrane Nursing Care Field (CNCF) is to improve health outcomes through increasing the use of the Cochrane Library and supporting Cochrane's role by providing an evidence base for nurses and healthcare professionals who deliver, lead or research nursing care. The CNCF produces Cochrane Corner columns, summaries of recent nursing-care-relevant Cochrane Reviews that are regularly published in collaborating nursing-related journals. Information on the processes CNCF has developed can be accessed at: cncf...
February 14, 2018: Nursing Standard
https://www.readbyqxmd.com/read/29440834/prevention-and-control-of-rheumatic-heart-disease-overcoming-core-challenges-in-resource-poor-environments
#15
REVIEW
Scott Dougherty, Andrea Beaton, Bruno R Nascimento, Liesl J Zühlke, Maziar Khorsandi, Nigel Wilson
Rheumatic heart disease (RHD) has long receded as a significant threat to public health in high-income countries. In low-resource settings, however, the specter of RHD remains unabated, as exemplified by recent data from the Global Burden of Diseases Study. There are many complex reasons for this ongoing global disparity, including inadequate data on disease burden, challenges in effective advocacy, ongoing poverty and inequality, and weak health systems, most of which predominantly affect developing nations...
January 2018: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/29432613/circulating-dkk1-and-trail-are-associated-with-cognitive-decline-in-community-dwelling-older-adults-with-cognitive-concerns
#16
Ryan D Ross, Raj C Shah, Sue Leurgans, Teodoro Bottligieri, Robert S Wilson, D Rick Sumner
Background: Osteoporosis and Alzheimer's disease (AD) are common diseases of aging that would seem to be unrelated, but may be linked through the influence of bone-derived signals on brain function. The current study aimed to investigate the relationship between circulating levels of bone-related biomarkers and cognition. Methods: The population included 103 community-dwelling older individuals with memory concerns but without cognitive impairment. A global cognition summary measure was collected at baseline and 6, 12, and 18-months post-enrollment by converting raw scores from 19 cognitive function tests to z-scores and averaging...
February 8, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29432312/survival-following-tumor-recurrence-in-children-with-medulloblastoma
#17
Donna L Johnston, Daniel Keene, Douglas Strother, Maria Taneva, Lucie Lafay-Cousin, Chris Fryer, Katrin Scheinemann, Anne-Sophie Carret, Adam Fleming, Samina Afzal, Beverly Wilson, Lynette Bowes, Shayna Zelcer, Chris Mpofu, Mariana Silva, Valerie Larouche, Josee Brossard, Eric Bouffet
Medulloblastoma is the most common malignant brain tumor in children. Published survival rates for this tumor are ∼70%; however, there is limited published information on outcome after disease recurrence. This was an observational study which included all persons under the age of 18 years diagnosed with medulloblastoma from 1990 to 2009 inclusive in Canada. Data collected included date of diagnosis, age at diagnosis, sex, stage, pathology, treatment, recurrence, and current status. Survival rates were determined...
February 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29431403/mildly-elevated-liver-transaminase-levels-causes-and-evaluation
#18
Robert C Oh, Thomas R Hustead, Syed M Ali, Matthew W Pantsari
Mild, asymptomatic elevations (less than five times the upper limit of normal) of alanine transaminase and aspartate transaminase levels are common in primary care. It is estimated that approximately 10% of the U.S. population has elevated transaminase levels. An approach based on the prevalence of diseases that cause asymptomatic transaminase elevations can help clinicians efficiently identify common and serious liver disease. The most common causes of elevated transaminase levels are nonalcoholic fatty liver disease and alcoholic liver disease...
December 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29431110/the-personal-genome-project-canada-findings-from-whole-genome-sequences-of-the-inaugural-56-participants
#19
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K C Yuen, Brett Trost, Tara A Paton, Sergio L Pereira, Jo-Anne Herbrick, Richard F Wintle, Daniele Merico, Jennifer Howe, Jeffrey R MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W L Sung, Zhuozhi Wang, Rohan V Patel, Giovanna Pellecchia, John Wei, Lisa J Strug, Sherilyn Bell, Barbara Kellam, Melanie M Mahtani, Anne S Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D Cohn, Dimitri J Stavropoulos, Sarah Bowdin, Matthew R Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M Stephen Meyn, Nasim Monfared, S Mohsen Hosseini, Ann M Joseph-George, Fred W Keeley, Ryan A Cook, Marc Fiume, Hin C Lee, Christian R Marshall, Jill Davies, Allison Hazell, Janet A Buchanan, Michael J Szego, Stephen W Scherer
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant...
February 5, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29430401/ethical-issues-related-to-clinical-research-and-rare-diseases-15th-gordon-l-snider-critical-issues-workshop-april-1-2016-bethesda-maryland
#20
Marilyn Coors, Larry Bauer, Kelly Edwards, Karen Erickson, Aaron Goldenberg, John Goodale, Kenneth Goodman, Christine Grady, David Mannino, Adam Wanner, Todd Wilson, Mark Yarborough, Maryan Zirkle
No abstract text is available yet for this article.
December 18, 2017: Translational Science of Rare Diseases
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