Genetic research designs in the real world Vishwajit L Nimgaonkar MD, PhD University of Pittsburgh firstname.lastname@example.org Complex disorders: models of causation Genetic factors : Several genes induce cumulative, small but discrete effects +
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Vishwajit L Nimgaonkar MD, PhD
University of Pittsburgh
Genetic factors: Several genes induce cumulative, small but discrete effects
Environmental factors: etiological role / increased variability
-No Etiological Factor Necessary or Sufficient
-Formal proof dependent on statistical analyses
What is the phenotype?
(L Almasy, PhD)
(estimated variations = 8,000,000 – 10,000,000)
1. All genetic variations unknown
2. All variants can not be evaluated
Gene mapping concepts
Recombination based gene mapping
Step 1: Identify large shared
among cases within families
Step 2: Narrow the shared region
using cases and controls (ASSOCIATION).
Associations at the population-level
B, DFamily based associations (haplotype relative risk)