PPT-Rare vs. common gene variants

as guides to pain mechanisms and drug development Alban Latremoliere PhD ACCELERATING THE DEVELOPMENT OF PRECISION PAIN MEDICINE IMMPACT XIX Friday June 3rd 2016 Kirby Neurobiology Center. G.Gibson. Homework. 3. Mylène Champs. Marine Flechet. Mathieu . Stifkens. 1. Bioinformatics - GBIO0009-1 - . K.Van. Steen University of . 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 . 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. Lipika. Ray. 4th . June 2010. Heritability:. Phenotype (P) = genotype (G) + environmental factors (E). (observed) (unobserved) (unobserved). Variances:. Heritability is defined as ratio of variances, by expressing the proportion of the phenotypic variance that can be attributed to variance of genotypic values:. Andrew Morris. Advanced Topics in GWAS. Toronto, 30 May 2012. Introduction. GWAS have been successful in detecting . novel loci for complex traits:. typically characterised by common variants of modest effect;. sibpair. test for rare variant . association. Sebastian Zöllner. University of Michigan. . . . Acknowledgements. Matthew . Zawistowski. Keng. -Han Lin. Mark . Reppell. Biases, confounding factors, current methods, and best practices. Luke Evans, Matthew Keller. Background – What Matt Keller presented. GREML-SC: single genetic relatedness matrix (GRM) to estimate heritability (. Stephen Montgomery. smontgom@stanford.edu. montgomerylab.stanford.edu. @. sbmontgom. Identifying the genes and variants responsible for disease.. Monogenic to polygenic diseases. Rare to common variants. for Colorectal . Cancer. Ulrike (. Riki. ) Peters. Fred Hutchinson Cancer Research Center. University of Washington. Overview. Significance and rationale. . Current efforts on rare and less frequent variants. Professor . Department of . Epidemiology and. Genetic Epidemiology Research Institute. University . of . California, Irvine. . Irvine, CA. kedward1@uci.edu. What is old is new. Rare Variants. This session. Implications for . Germline. Editing. Human Diseases and Traits. Rare, . Mendelian. Cystic fibrosis, . Huntington Disease,. Diastrophic Dysplasia . …. Common, . polygenic. Heart disease, Alzheimer’s. . . Parts of what’s known and a glimpse of what’s next…. Patrick Dion, . Ph.D. . Neurology and Neurosurgery. McGill . University. Human Genome Basics. 3 billions base . pairs.. Contains protein-coding and noncoding DNA.. ARTICLEAdvancements in science and technology have helped researchers develop new treatments for some of the most common diseases known to man. Diseases that were once considered death sentences are n As an alternative, Speakman has putforward a non-adaptive scenariothe drifty gene hypothesis.According to this idea, genetic drift— the change ofgenefrequencies due to random, non-selective proce