Finding the missing heritability of complex diseases

  title={Finding the missing heritability of complex diseases},
  author={Teri Manolio and Francis S. Collins and Nancy J. Cox and David K. Goldstein and Lucia A. Hindorff and David J. Hunter and Mark I. McCarthy and Erin Ramos and Lon R. Cardon and Aravinda Chakravarti and Judy H Cho and Alan E. Guttmacher and Augustine Kong and Leonid Kruglyak and Elaine R. Mardis and Charles N Rotimi and Montgomery Slatkin and David Valle and Alice S. Whittemore and Michael Boehnke and Andrew G. Clark and Evan E. Eichler and Greg Gibson and Jonathan L. Haines and Trudy F C Mackay and Steven A. McCarroll and Peter M. Visscher},
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, ‘missing’ heritability can be explained. Here we examine potential sources of missing heritability and propose research… CONTINUE READING
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