PPT-Building on GWAS for HLB-disease: the US CHARGE Consortium

CHARGES Eric Boerwinkle Washington DC April 7 2010 Overall Objective This proposed research will leverage existing population laboratory and computational resources to identify susceptibility . 6 December 2012. Introduction. I. mputation describes the process of predicting genotypes that have not been directly typed in a sample of individuals:. m. issing genotypes at typed variants;. genotypes at un-typed variants that are present in an external high-density “reference panel” of phased . World’s Oldest Human. Jeanne Calment . of Arles, France. 1875-1997. 122 . yrs. Longevity. is Heritable. From Gross L., 2006. Helen Reichert and siblings, as children and centenarians. Mollye. Marcus, 111 years old, and family. Judy H. Cho, M.D. . Ward-Coleman Professor of Medicine and Genetics, Icahn School of Medicine at Mount Sinai. Central importance of human genetics. Germline. DNA variants.  disease susceptibility. Presented by Karen . Xu. What you need to know. Basic genetic concepts behind GWAS. Genotyping technologies and common study designs . Statistical concepts for GWAS analysis. Replication, interpretation and follow-up of association results. Jeff Barrett. What are the goals of disease genetics?. For a given disease, we would like to:. Predict if someone will get sick, how bad it will be, and what treatment will work.. Test hypotheses about relationships to other diseases and traits.. Matt . Hudson . Crop Sciences. NCSA. . HPCBio. IGB. University . of Illinois. Outline. How do we predict molecular or genetic functions using variants?. Predicting . when a coding SNP or SNV is “damaging”. Aaron Johnson. Vitaly Shmatikov. Background. Main goal: . discovering genetic basis for disease. Requires analyzing large volumes of genetic information from multiple individuals. Voluntary and mandated sharing of genetic datasets between hospitals, biomedical research orgs, other data holders. An International Industrial Biomedical Consortium Researching the Genetic Basis of Drug Related Serious Adverse Events . “. iSAEC. Update”. . Shanghai . Jiaotong. University. February, 2012. 1. Hardy-Weinberg equilibrium. Meta-analysis. SNP Imputation. Review what we have learned about the genetics of common disease from GWAS. Where do we go from here? What do we go with GWAS results.. functional characterization of GWAS loci. Dennis W. Dickson MD. Department of Neuroscience. Mayo Clinic, Jacksonville, FL. Parkinsonism: clinical syndrome. Macroscopic findings in Parkinsonism. Loss of neuromelanin pigmentation of substantia nigra (dopaminergic neurons) and locus ceruleus (noradrenergic neurons). genetic variants. BMMB 551 Genomics. Ross . Hardison. 4/7/15. 1. Published. GWA Reports, 2005 . – 6/2012. Total . Number. of Publications. Calendar Quarter. Through . 6/30/12 postings. 1350. GWAS catalog interactive browser. - Improved prediction, prevention, diagnosis and monitoring All information regarding future IHI Call topics is indicative and subject to change. Final information about future IHI Calls will be co Inês Barroso. Joint Head of Human Genetics. Metabolic Disease Group Leader. Wellcome. Trust Sanger Institute. 1. Objectives. Why perform meta-analysis?. How? . What are the issues to consider?. What can you gain?. . Last Updated: April 17, 2020. Foundation Fighting Blindness (FFB) seeks to build a Consortium for the purpose of conducting clinical studies in patients with rare inherited retinal disorders (IRDs).  .