Abstract for presentation at 11th International Congress of Human Genetics

Linkage analysis of large families, in the new era of dense marker sets

  • Dr Russell Thomson, Menzies Research Institute, University of Tasmania, Australia
  • Dr Stephen Quinn, Menzies Research Institute, University of Tasmania, Australia
  • Dr Jim Stankovich, Menzies Research Institute, University of Tasmania & Walter and Eliza Hall of Medical Research, Australia
  • Dr James McKay, International Agency for Research on Cancer, France
  • Jeremy Silver, Walter and Eliza Hall of Medical Research, Australia
  • Dr Melanie Bahlo, Walter and Eliza Hall of Medical Research, Australia
  • Liesel Fitzgerald, Menzies Research Institute, University of Tasmania, Australia
  • Dr Jo Dickinson, Menzies Research Institute, University of Tasmania, Australia

    • The search for genetic determinants of disease is evolving quickly with the price of genotyping dropping at a great rate. Many genome wide association studies with dense marker sets and many cases are currently being proposed. This will cover the search for common, disease-linked variants. The search for rare variants, via linkage analysis, stands to benefit from the availability of dense marker sets as well.
    It is now cost efficient to genotype many cases in a large pedigree. As yet, the current methods of linkage analysis for a genome wide scan on large families are computationally prohibitive. We propose a case pair-by-pair, approximate multipoint linkage approach. We demonstrate the sensitivity and specificity of this method through the simulation of pedigree data with the use of HapMap data. Through these simulations, we show that the approximation becomes negligible for dense marker sets (>50k).

    Conference Organiser - ICMS Pty Ltd