PPT-Analysis of genome-wide association studies

Lecture 1 Introduction Linkage studies Traditional approach to identifying genes for human traits and diseases was through linkage For Mendelian diseases eg Huntingtons disease there is a clear cosegregation of genetic markers with disease within pedigrees. 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. BIOST 2055. 04/01/2015. Human Genome and Single Nucleotide Polymorphisms (SNPs). 23 chromosome pairs. 3 billion bases. A single nucleotide change between pairs of chromosomes. E.g. . Haplotype1. : AAGG. Nadia Khan, Rick Smith, . and Anna . Kuperman. Epigenetics 2012. Introduction. Most Genome Wide Approaches were adapted from technologies originally developed for detecting methylation at the level of a single gene. Younghun. Han. Department of Epidemiology. UT MD Anderson Cancer Center. Outline. Introduction. GeneABEL. : . GWAA.data. class. Importing data to . GenABEL. Genetic data QC. GWA association analysis. metritis. in U.S. Holstein cattle . (Paper 610). J.B. Cole,*. 1. K.L. Parker Gaddis,. 2. D.J. Null,. 1. C. Maltecca,. 3. and J.S. Clay. 4. 1. Animal Genomics and Improvement Laboratory, ARS, USDA, Beltsville, MD, USA. Nelson Freimer. UCLA Center for Neurobehavioral Genetics . What makes a genetic association significant?. Outline. The problem of achieving validated findings in psychiatric genetics. Approaches to genetic mapping and statistical significance. Erzurumluoglu. , Liu, and Jackson . et al. , 2019. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. Molecular Psychiatry. Genetics of Smokers: . Bas E. Dutilh. March 4. th. 2013. Protein function. Phenotypic. . function. E.g. . apoptosis. GO: . Biological. . process. Cellular. . function. E.g. . ribosome. GO: . Cellular. component. Molecular. Genomics Lesson 12_1. Ross . Hardison. 4/19/15. 1. Genetic association. The occurrence together in a population, more often than can be readily explained by chance, of two or more traits of which at least one is known to be genetic.. Kesheng Wang, PhD. Department of Biostatistics and Epidemiology. College of Public Health. East Tennessee State University. 2. Outline. Introduction . Alcohol dependence (AD). Genetic study. . Subjects and Methods. Q2. Is there such a thing as addictive personality? . Q3. What does SNP stand for? . Q4. In terms of identifying addiction risk genes, have we had any success? . . Do drugs “hijack the brain” robbing the user of their free will? . 2017. ggibson.gt@gmail.com. http://www.cig.gatech.edu. Outline. General . overview of association . studies. Sample Results. Three steps to GWAS:. Primary scan. Replication. Fine mapping. Individual Site Score. 2023 Statistical Genetics workshop . Presenter: Daniel Howrigan. Data group leader . –. Neale Lab (MGH, Broad Institute). Slides adapted from previous workshop presenters:. Lucia . Colodro. Conde (QIMR), Katrina . emm1. invasive Group A . Streptococcus. isolated from Belgian patients during 1994˗2013 . J. Coppens. 1. , . B. B. . Xavier,. . J. Sabirova. 1. , C. Lammens. 1. , K. Loens. 2. , S. Malhotra-Kumar.