PPT-Screening of Genetic Variants in Familial Case of Myeloid Neoplasm Using Exome Sequencing

State University of Campinas UNICAMP School of Medicine Hematology and Transfusion Medicine Center Hemocentro Sara Teresinha Olalla Saad Campinas São Paulo Brazil 2016 Region 2 717 478 inhabitants . Gil . McVean. There are no new questions in population genetics. …only new types of data. Genome sequences of entire populations. Data with linkage to deep phenotype information. Data from multiple species. Stefano . Lise. Bioinformatics & Statistical Genetics (BSG) Core. The . Wellcome. Trust Centre for Human Genetics (WTCHG), Oxford. Email: stefano@well.ox.ac.uk. Outline. Human genetic variation in health and disease. Hypercholesterolaemia. Dr. Rosemary Croft. 15. th. . May 2013. Familial . Hypercholesterolaemia. 1 in 500 affected. Genetic – autosomal dominant. Untreated 50 develop CVD by age 55. DNA test costs £320. Hina. . Naushad. , M.D., Timothy C. Greiner M.D., . Radwa. El . Behery. M.D., Greg . Bociek. M.D., . Phuong L. Nguyen . M.D. . University of Nebraska Medical Center. Mayo Clinic. History. 24-year-old . Risks and Benefits of Knowing Your Genetic Makeup. Julie Hopp. Genetic Screening: Who Should Be Tested. CDC’s 2004 Science Ambassador Program. Overview. Genetics Review. Types of Genetic Disorders. (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 . @. deannachurch. Short Course in Medical Genetics 2013. Deanna M. Church . Senior Director of Genomics and Content. Personalis, . Inc. Analyzing and interpreting variants. Analytical Validity. Clinical Validity. Dr. . B.V.Vydehi. M.D. PROFESSOR OF PATHOLOGY. NARAYANA MEDICAL COLLEGE,NELLORE. Uncontrolled & abnormal proliferation of one of white blood cells & their precursors in the bone marrow and peripheral blood. 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. They are also responsible for many of our characteristics, such as our eye colour, blood type or height. We have thousands of genes. We each inherit two copies of most genes, one copy from our mother 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 . 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 . Newburger. What is Cancer?. Definitions. A class of diseases characterized by malignant growth of a group of cells. Growth is uncontrolled. Invasive and Damaging. Often able to metastasize. An instance of such a disease (a malignant tumor). Stephen S. Rich, PhD. September 30, 2013. NHLBI . Exome. Sequencing Project (ESP). Three cohort-based groups. Heart disease (HeartGO, S Rich). Lung disease (LungGO, M Bamshad). Women’s Health Initiative (WHISP, R Jackson).