Automatic pedigree reconstruction for genetic studies in isolated populations

C. Larizza, I. Buetti, G. Milani, A. Nuzzo, C. Sala, D. Toniolo, R. Bellazzi

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

This paper describes a tool implemented to automatically reconstruct the pedigree of an isolated population of Northern Italy with the aim of supporting genetic studies. The goal of such studies is to analyze genealogic, clinical and genetic data for genetic dissection of complex diseases. In this context the reconstruction of the population pedigree is fundamental to verify that such population is a genetic isolate and obtain the parental relationships among the individuals participating to the study. The algorithm presented in the paper, from heterogeneous data sources (demographic municipal and parish archives and other data sources), derives the pedigree applying several heuristic rules in a predefined order. One of the main difficulties in performing such task stands in the 'record linkage' process that requires the definition of a sufficiently general strategy for managing the ambiguities caused by missing or imprecise/erroneous input data. The paper, finally, presents and discusses the preliminary results obtained by reconstructing the pedigree of four villages from the data collected during the first eighteen months of project.

Original languageEnglish
Title of host publicationStudies in Health Technology and Informatics
Pages1240-1244
Number of pages5
Volume129
Publication statusPublished - 2007
Event12th World Congress on Medical Informatics, MEDINFO 2007 - Brisbane, QLD, Australia
Duration: Aug 20 2007Aug 24 2007

Other

Other12th World Congress on Medical Informatics, MEDINFO 2007
CountryAustralia
CityBrisbane, QLD
Period8/20/078/24/07

Keywords

  • isolated population
  • pedigree
  • record linkage

ASJC Scopus subject areas

  • Biomedical Engineering
  • Health Informatics
  • Health Information Management

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