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  Introduction to Genetic Epidemiology  
  April 19, 2001

Genetics

 
     
  University of Brescia, Brescia, Italy
5-8 June, 2001


OBJECTIVES

This will be introductory course covering basic methods and algorithms for the analysis of genetic data, with an emphasis on the statistical methods and gene mapping. The course is aimed at statisticians with elementary knowledge of genetics and at clinicians and researchers in health departments and industry, with some knowledge of statistical methods. The goal of this course is to introduce statistical techniques used to investigate the role of genetics in disease aetiology.
Topics covered include basic human genetics ( allele frequency estimation, simple segregation and linkage analysis, polygenic and multifactorial models), computing likelihoods for pedigree data, model-based and model-free linkage tests, and association tests.
The course will be self-contained with a suitable balance between methodology and application to biomedical and epidemiological research. The program package S.A.G.E. (Statistical Analysis for Genetic Epidemiology) will be used for the analysis of various examples to illustrate the methods.
The course’s language will be english.

Course Outline

The course will demonstrate S.A.G.E. 4.0 programs using two datasets – one for a discrete binary trait and one for a continuous trait. For each program, the theory will first be discussed and then a practical example, focusing on the analysis implementation and data interpretation, will be used for illustration. There will be a ‘hands on’ portion where the participants perform actual analyses The format is four 1½ hour sessions per day (9.00-12.30 AM and 2.00-5.30 PM), leaving ample time for discussion.

Day 1 Introduction to Genetics - Terminology and basic principles: Hardy-Weinberg equilibrium, modes of inheritance (dominance, recessivity, epistasis), polygenic and multifactorial models, family relationships, identity by descent, linkage and linkage disequilibrium. Data and parameter file preparation - getting the necessary files ready for S.A.G.E. Discussion/description of the datasets used in the examples
Day 2: Descriptive statistics on pedigree structure, and trait information, data cleaning and pairs classification (PEDINFO,PEDCHK2,RELTEST). Familial correlations and associations (FCOR2,ASSOC2)
Day 3 Model-free linkage analysis of continuous and binary traits (GENIBD, SIBPAL2, RELPAL2, TDTEX)
Day 4 Model-based linkage analysis of continuous and binary traits (MLOD). Parameters estimation for the model-based linkage by means of segregation analysis (REG2).
 
 
Organized by: Adriano decarli; Sergio Barlati; Maurizio Castellano
Invited Speakers: Robert Elston ( Case Western Reserve University – Cleveland, Ohio, USA) has been developing statistical methods for the analysis of pedigree data for over 30 years, having written numerous articles in e.g. Biometrics, Human Heredity and The American Journal of Human Genetics. Since receiving federal funding, starting in 1987, to develop S.A.G.E. and train individuals in its use, he has offered an average of two short courses/workshops per year on the subject, mostly in the United States. He has been on the editorial board of numerous journals, including Biometrics, The American Journal of Medical Genetics and Genetic Epidemiology. In 1993 he was Chair of the ASA Section in Teaching of Statistics in the Health Sciences. He is a Fellow of the ASA, a Guggenheim Memorial Fellow and has received numerous awards – most notably the William Allan Award from the American Society of Human Genetics in 1996. He was President of the International Genetic Epidemiology Society for 1997.

Audrey Schnell ( Case Western Reserve University – Cleveland, Ohio, USA) has been assisting in teaching S.A.G.E. short courses and has provided user support for the programs since 1995. She obtained her Ph.D. in Genetics and Molecular Epidemiology at Case Western Reserve University in 1999.
 
Deadline for Abstracts: no abstracts
 
Registration: The regular course fee is 800.000 Lira (+VAT). It includes course registration, course notes and certificate of attendance. The fee is reduced to 500.000 Lira for doctoral students. The number of participants will be limited to 20 persons. Registration will be accepted on a first-come-first served basis up to May 18, 2001.
E-mail: spira@med.unibs.it
 
  Posted by:   Maurizio Castellano  
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