PPT-The NHLBI Exome Sequencing Project

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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

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The NHLBI Exome Sequencing Project: Transcript

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. Raphael Carly Siskind Andrew R Findlay Jason D Buenrostro William J Greenleaf Hannes Vogel John W Day Kevin M Flanigan Aaron D Gitler Department of Genetics Stanford University School of Medicine Stanford CA USA Neuroscience Center Stanford Ho 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. . Sahar . Al . Seesi and . Ion M. ă. ndoiu. Computer Science & Engineering Department. University of Connecticut. Class I endogenous antigen presentation. Somatic rearrangement of T-cell receptor genes. On the role of genomic medicine in the practice of neurology, an update. The last 15 years set the stage for . g. enomic medicine. First Human Genome sequencing:. 6 to 8 years. $1 billion. Completed April 14, 2003. (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. Advances in the Genetic Diagnosis of the Cerebellar Ataxias. Brent L. Fogel, M.D., Ph.D. .. Associate Professor. UCLA Department of Neurology. Program in . Neurogenetics. David Geffen School of Medicine . 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 . Gloria T. Haskell. 1. , Brian C. . Jensen. 3. , Cecile Skyrzynia. 1. , Daniel S. . Marchuk. 1. , . Leigh Ann Samsa. 3. , Wei Huang. 3. , Chris Bizon. 2. , Kirk C. Wilhelmsen. 1,2. , Karen Weck. . 1. 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 . 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 . Rosa. sp.). Tessa . Hochhaus. *, Cristiane H. . Taniguti. , . Jeekin. Lau, Patricia E. Klein, David H. Byrne, and Oscar . Riera. -Lizarazu. Department of Horticultural Sciences, Texas A&M University, College Station, TX 77843-2133, USA.

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