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Selecting Cases and Controls for DNA Sequencing Studies Using Family Histories of Disease

- Wrote by Wonji Kim
- Last updated: 2016-03-21

About the work

In this work, we propose a new statistical method for selecting cases and controls for sequencing studies based on disease family history. We assume that disease status is determined by unobserved liability score. Our method consists of two steps: first, the conditional means of liability are estimated given the individualí»s disease status and those of their relatives with the liability threshold model, and second, the informative subjects are selected with the estimated conditional means. Our simulation studies showed that statistical power is substantially affected by the subject selection strategy chosen, and power is maximized when affected (unaffected) subjects with high (low) risks are selected as cases (controls). The proposed method was successfully applied to genome-wide association studies for type-2 diabetes, and our analysis results reveal the practical value of the proposed methods.



Wonji Kim, Ph.D Candidate <>
Dandi Qiao, Ph.D <>
Michael H. Cho, MD <>
Soo Heon Kwak, MD <>
Kyong Soo Park, MD <>
Edwin K Silverman, MD, Ph.D <>
Pak Sham, Ph.D <>
Sungho Won, Ph.D <>

Wrote and maintained by Wonji Kim. Please contact me. Any comments will be welcome.



Manuscript    The initial version of the manuscript including detailed methods
Sample Selector    R function for calculating conditional expectation(CE) and selecting informative subjects based on CEs
Manual for R code    A description for R function and example code
example data file    An example fam file



  • Wonji Kim, ..., Sungho Won, (2016) Submitted to Statistics in Medicine
  • Powered by Won's Lab., Seoul National University, Korea