PPT-Genome-wide Association Studies

Genomics Lesson 121 Ross Hardison 41915 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. 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. Lecture 1: Introduction. Linkage studies. Traditional approach to identifying genes for human traits and diseases was through linkage.. For . Mendelian. diseases (e.g. Huntington’s disease) there is a clear co-segregation of genetic markers with disease within pedigrees.. 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. 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. 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. 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. Africa. Dr Kirk Rockett. Wellcome. Trust Advanced Courses; Genomic Epidemiology in Africa. , . 21. st. – 26. th. June 2015. Africa . Centre for Health and Population Studies, University of KwaZulu-Natal, Durban, South Africa. 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 .