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TMF-School extra: Logical reasoning in Human Genetics (Berlin)

Termin: Montag, 24. September 2012, 11:00 - Freitag, 28. September 2012, 15:00

Kategorie: TMF-Veranstaltungen

TMF-School extra:

Logical reasoning in Human Genetics

Date: September 24-28, 2012
Place: TMF Conference rooms | Georgenstraße 22 | 10117 Berlin/Germany

Participants: limited to 30
Registration fee: € 700,00

  1. Fyer TMF-School extra: Logical reasoning in Human genetics [pdf | 864 kb]
  2. Course description - long version [pdf | 17 kb]
  3. Online registration
  4. Report on TMF-School extra
  5. Downlaod presentations (only for participants)



  • Joseph D. Terwilliger, PhD (Columbia)
  • Joseph Lee, DrPh, MPH (Columbia)
  • Kenneth M. Weiss, PhD (PennState)

Course description

This course will introduce basic concepts of human evolution and population genetics – the processes which created the etiological architecture of complex human disease in today’s population. We will explain why most human phenotypes are under the influence of an enormous number of (mostly individually rare) genetic factors which vary both within and between populations. The failures of genome-wide association studies to identify important risk factors for common disease will be shown to be completely consistent with what evolutionary theory actually predicts and is likewise consistent with real data from genetic studies in agriculture and model organisms. Because a researcher cannot do genetic experiments in humans but is forced to work with observational data, we will further discuss how the researcher searches for and utilizes natural experiments that approximate the studies we would design if we had a more convenient species to study. Since evolutionary theory is so critical to understanding exposure distributions in genetic variation, it is critical for anyone working in genetic epidemiology to have a conceptual background in genetics.



Philosophical and Evolutionary Background  

  • Introduction:  What is ‘logical’ about this course or about science?
  • Doubt: Scientific inference in a probabilistic world 
  • Evolution and the Darwinian method:  Why should traits be ‘genetic’?
  • “The human genome” doesn’t exist.  Why is it so useful? Genome evolution  

Simple traits?  

  • The consequences of being diploid: “Mendelian” inheritance
  • Just like peas!  Genetic epidemiology of simple traits
  • But….not simple like peas after all
  • Hunting causes of simple traits: linkage and LD analysis – theory and applications  

Complex traits and the evolution of genetic architecture  

  • Phenogenetics and the consequences of evolution by phenotype: polygenic traits
  • Environmental and cultural cofactors and the like
  • Detectance, study design, and linkage and LD analysis of complex traits
  • The genomic ‘commons’: a cornucopia of public tools and resources
  • Simulation is poor man’s theory by another name: ForSIM    

Applied genetics (study design and data)  

  • Genetic Epidemiology approaches to complex traits
  • Study designs for complex traits
  • Applications of linkage and LD analysis to complex traits
  • Designing your study:  simQTL as a simulation aid
  • Effect size estimation, attributable risk, and their equivalents in genetics.
  • ‘Hidden heritability’ isn’t hidden: the complex nature of complex traits
  • Not all inheritance is Mendelian, but it’s all evolutionary (somatic mutation)   

GWAS, Biobanks, and Biotechnology to the rescue?  

  • Historical overview of GWAS and HapMap:
  • GWAS, Biobanks and other convenience studies for complex traits
  • GWAS and Biobanks: we see what we should expect to see (unfortunately)
  • Natural Experiments in human genetics – a better alternative to GWAS
  • Revisiting truth: Statistical inference of statistical causation
  • Wrap-up, Summary, and Discussion


Overnight Stay

MotelOne (next to Berlin Hauptbahnhof)
Invalidenstraße 54 | 10557 Berlin
Price for single room: 69,00 € incl. breakfast & w-lan (contingent till 01.09.2012)
Booking: FAX booking form [PDF]

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