Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

@article{IonitaLaza2011StudyDF,
  title={Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.},
  author={Iuliana Ionita-Laza and Ruth Ottman},
  journal={Genetics},
  year={2011},
  volume={189 3},
  pages={1061-8}
}
The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease… CONTINUE READING

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