Journal
BIOINFORMATICS
Volume 32, Issue 10, Pages 1583-1585Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btw019
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Funding
- Department of Innovation, Research, Development and Cooperatives of the Autonomous Province of Bolzano-South Tyrol
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A Summary: Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing valuable directions in choosing families for detailed follow-up studies. We developed FamAgg, an open source R package that contains both established and novel methods to investigate familial aggregation of traits in large pedigrees. We demonstrate its use and interpretation by analyzing a publicly available cancer dataset with more than 20 000 participants distributed across approximately 400 families.
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