Abstract for presentation at 11th International Congress of Human Genetics

Analysis of familial data in large pedigrees

  • Dr Stephen Quinn, Menzies Research Institute, University of Tasmania, Australia
  • Dr Jim Stankovich, Walter and Eliza Hall Institute, Australia
  • Dr Russell Thomson, Menzies Research Institute, Australia
  • Liesel FitzGerald, Menzies Research Institute, Australia
  • Dr Briony Patterson, Menzies Research Institute, Australia
  • Ms Andrea Polanowski, Menzies Research Institute, Australia
  • Dr James McKay, International Agency for Research in Cancer, France
  • Dr Jo Dickinson, Menzies Research Institute, Australia

    • Linkage analysis of familial data is currently limited by available technology and software running time prohibits the analysis of family pedigrees of even modest size. There is no software available at present that deals with large families and thousands of markers simultaneously. Consequently, it is necessary to devise alternative strategies when carrying out analyses of complex diseases with large pedigrees. One such technique involves splitting the underlying pedigree into sub-pedigrees each consisting of two cases and their ancestors up to the nearest common founder. This allows programs such as MERLIN to analyse each sub-pedigree and obtain probabilities that pairs are identical-by-descent (IBD). Summation over all pairs can then yield an approximate S-pairs statistic that is a useful tool for detecting preliminary regions of interest across the genome. We have developed recursive algorithmic software that is freely available, and automatically splits a large pedigree into sub-pedigree and analyses each sub-pedigree using MERLIN to produce an approximate S-pars statistic. The capabilities and limitations of the software are discussed.

    This work was funded by the following organizations: Royal Hobart Hospital Research Foundation, Cancer Council of Tasmania, ANZ Trusts, Mazda Foundation, Perpetual.

    Conference Organiser - ICMS Pty Ltd