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Statistical Challenges in Sequence-Based Association Studies with Population- and Family-Based Designs

Statistics in Biosciences volume 5, pages 54–70 (2013)Cite this article

Abstract

Over the past few years, association analysis has become the primary tool for finding genes that underlie complex traits. Both population-based and family-based designs are commonly used designs in genetic association studies. Recent technological advances in exome and whole genome sequencing afford the next generation of sequence-based association studies. We review here recent developments in statistical methodology and remaining challenges related to sequence-based association studies with both population-based and family-based designs.

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Acknowledgements

The research was partially supported by NSF Grant DMS-1100279 and NIH Grants 1R03HG005908 and R01MH095797 (to I.I.-L).

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Authors and Affiliations

  1. Department of Biostatistics, Columbia University, New York, NY, 10032, USA

    Iuliana Ionita-Laza

  2. Channing Laboratory, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Michael H. Cho

  3. Department of Biostatistics, Harvard University, Boston, MA, 02115, USA

    Nan M. Laird

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  1. Iuliana Ionita-Laza
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  2. Michael H. Cho
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  3. Nan M. Laird
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Correspondence to Iuliana Ionita-Laza.

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Ionita-Laza, I., Cho, M.H. & Laird, N.M. Statistical Challenges in Sequence-Based Association Studies with Population- and Family-Based Designs. Stat Biosci 5, 54–70 (2013). https://doi.org/10.1007/s12561-012-9062-9

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  • DOI: https://doi.org/10.1007/s12561-012-9062-9

Keywords

  • Association study
  • Next-generation sequencing
  • Population- and family-based designs