PPT-The NHLBI Exome Sequencing Project

Stephen S Rich PhD September 30 2013 NHLBI Exome Sequencing Project ESP Three cohortbased groups Heart disease HeartGO S Rich Lung disease LungGO M Bamshad Womens Health Initiative WHISP R Jackson. exome. sequencing of a Syrian pedigree. identified the candidate causal mutation associated with rheumatoid arthritis. .. Yukinori Okada. 1,2. , . Namrata. Gupta. 2. , Daniel Mirel. 2. , Stacey Gabriel. What has worked and what may work for AHC. Erin L. Heinzen, Pharm.D, Ph.D. Center for Human Genome Variation. Duke University School of Medicine. July 22, 2011. e.heinzen@duke.edu. EPILEPSY DISORDERS. BIOS . 6660 . Hung-Chun (James) Yu. Shaikh Lab. 04/28/2014. Human Genetic . Diseases. Penetrance vs . F. requency. Kaiser J. . S. cience. (2012) 338:1016-1017.. Human Genetic . Diseases. Complex Disorder. Pankaj Qasba, Ph.D.. TOPMed Team. Stimulate discovery in high impact disease areas. Build a Resource for the Scientific Community. Ensure well phenotyped and genotyped participants are chosen from traditionally underrepresented populations . (on the path to precision medicine). Raphael Bernier, PhD. Professor, Department . of . Psychiatry. Clinical . Director, Seattle Children’s . Autism Center. Associate Director, Center on Human Development and . Lorraine Silsbee, M.H.S.. MESA Project Officer. Epidemiology Branch. Division of Cardiovascular Sciences. National Heart, Lung, and Blood Institute. MESA Steering Committee Meeting (Webinar). September 8, 2017. July 2020 Journal Club of the Fetal Heart Society. Background. Etiology of CHD thought to be combination of genetics and environment. Higher rates of genetic abnormalities found in fetuses with CHD compared to liveborn patients with CHD, thought to be secondary to . Information provided by:. Lipoproteins. Risk Factors for Cholesterol. Levels. Blood Test for Cholesterol Levels. Cholesterol Goals. Metabolic Syndrome. High LDL Cholesterol. in Arteries. Foods High in Saturated Fat. Drew Carlson, Ph.D.. Division of Cardiovascular Sciences. National Heart, Lung, and Blood Institute. for the. Jackson Heart Study. September 22, 2016. National Institutes of Health. . Much of the biomedical and bio-behavioral research in the United States is supported by . AT-A-GLANCE: Healthy Sleepleep is not just a block of time when you are not awake. Thanks to sleep studies done over the past several decades, it is now known that sleep has distinctive stages that c ESP Meeting, April 6, 2010. 1. Executive Summary. Sequenced sample NA12878 at University of Washington (UW) and the Broad Institute (BI), shared the resulting data and compared SNP calls.. Once a common, post-sequencing-and-alignment analysis strategy is applied, UW and BI callsets . E. me. R. g. EN. cy Care Clinical Trials Network . SIREN. SIREN Overview. SIREN will enable conduct of high-quality, multi-site clinical trials to improve the outcomes for patients with neurologic, cardiac, respiratory, hematologic and trauma emergency events.. a . Genetic. . Specialist. Fernando . Scaglia. MD FACMG. Professor. Department of Molecular and Human Genetics. Baylor College of Medicine. Reasons a Child Sees a Genetic Specialist. Abnormal newborn screening results. spectrum. (Ref: OMIM 300163). Strehle EM. Johnson K. Rakocevic-. Stojanovic V. Peric S. Milenkovic S. Farrugia ME. Longman C. Straub V. Introduction. The . FHL1. gene encodes the Four and a half LIM domains protein 1. LIM domains were first identified in the .