Computer-based genealogy reconstruction in founder populations |
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Authors: | Milani Giuseppe Masciullo Corrado Sala Cinzia Bellazzi Riccardo Buetti Iwan Pistis Giorgio Traglia Michela Toniolo Daniela Larizza Cristiana |
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Institution: | a Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy b Department of Computer Engineering and Systems Science, University of Pavia, 27100 Pavia, Italy c Institute of Molecular Genetics - CNR, 27100 Pavia, Italy |
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Abstract: | This paper describes a software tool that reconstructs entire genealogies from data collected from different and heterogeneous sources, including municipal and parish records archived over centuries. The tool exploits a record linkage algorithm relying on a rule-based data matching approach. It applies a general strategy for managing the ambiguities due to missing, imprecise or erroneous input data. The process follows an iterative approach that combines automatic pedigree reconstruction with software-empowered human data revision to improve the quality and the accuracy of the results and to optimize the matching rules.The paper discusses the results obtained by reconstructing the entire genealogy of the population of the Val Borbera, a geographically isolated valley in Northern Italy. The genealogy could be reconstructed from data going back as far as the XVI century. The resulting pedigree includes 75,994 trios, 58.9% of which belonging to a unique big family, reconstructed over 13 generations. |
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Keywords: | Population genetics Data integration Algorithms Record Linkage Pedigree |
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