Instruct: Identify the main and secondary category of Arxiv papers based on the titles and abstracts
Query: Detection boundary and Higher Criticism approach for rare and weak
  genetic effects   Genome-wide association studies (GWAS) have identified many genetic factors
underlying complex human traits. However, these factors have explained only a
small fraction of these traits' genetic heritability. It is argued that many
more genetic factors remain undiscovered. These genetic factors likely are
weakly associated at the population level and sparsely distributed across the
genome. In this paper, we adapt the recent innovations on Tukey's Higher
Criticism (Tukey [The Higher Criticism (1976) Princeton Univ.]; Donoho and Jin
[Ann. Statist. 32 (2004) 962-994]) to SNP-set analysis of GWAS, and develop a
new theoretical framework in large-scale inference to assess the joint
significance of such rare and weak effects for a quantitative trait. In the
core of our theory is the so-called detection boundary, a curve in the
two-dimensional phase space that quantifies the rarity and strength of genetic
effects. Above the detection boundary, the overall effects of genetic factors
are strong enough for reliable detection. Below the detection boundary, the
genetic factors are simply too rare and too weak for reliable detection. We
show that the HC-type methods are optimal in that they reliably yield detection
once the parameters of the genetic effects fall above the detection boundary
and that many commonly used SNP-set methods are suboptimal. The superior
performance of the HC-type approach is demonstrated through simulations and the
analysis of a GWAS data set of Crohn's disease.

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The categories of this paper are: hep-th
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The categories of this paper are: bayes-an
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The categories of this paper are: funct-an
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The categories of this paper are: adap-org
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The categories of this paper are: solv-int
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The categories of this paper are: gr-qc
2
The categories of this paper are: math
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The categories of this paper are: q-fin
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The categories of this paper are: eess
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The categories of this paper are: patt-sol
33
The categories of this paper are: plasm-ph
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The categories of this paper are: dg-ga
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The categories of this paper are: astro-ph
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The categories of this paper are: chem-ph
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The categories of this paper are: hep-lat
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The categories of this paper are: cond-mat