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[Less common variants association study and statistical analysis].

X Liao1, J Deng, J Y Xun

  • 1Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410078, China.

Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi
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Summary
This summary is machine-generated.

Genomewide association studies (GWAS) identify common variants for complex diseases but miss heritability. This paper reviews study designs and statistical tests for less common variants to explore missed genetic components.

Keywords:
Association studyLess common variantsStatistical test

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Area of Science:

  • Genetics
  • Genomics
  • Statistical Genetics

Background:

  • Genomewide association studies (GWAS) have been widely used to identify genetic variants associated with complex diseases and quantitative traits, primarily focusing on the "common disease-common variant" hypothesis.
  • However, common variants identified by GWAS typically explain only a small fraction of the heritability for these conditions.
  • The "common disease-rare variant" hypothesis has been proposed to account for the missing heritability.

Purpose of the Study:

  • To provide an overview of study designs for investigating the genetic contributions of less common variants.
  • To review statistical tests applicable to the association studies of less common variants.
  • To discuss the potential of exploring "missed heritability" through the study of rare variants.

Main Methods:

  • Review of existing literature on study designs for common and rare variant association studies.
  • Overview of statistical methodologies employed in genomewide association studies.
  • Discussion of emerging statistical approaches for less common variants.

Main Results:

  • GWAS based on the "common disease-common variant" hypothesis have limitations in explaining total heritability.
  • Next-generation sequencing technologies facilitate the study of less common and rare variants.
  • Various study designs and statistical tests are available for analyzing less common variants.

Conclusions:

  • The study of less common variants is crucial for a comprehensive understanding of complex disease genetics.
  • Advancements in sequencing technology enable more thorough investigation of the genetic architecture of diseases.
  • Further research into study designs and statistical methods for rare variants is warranted to fully elucidate genetic contributions to heritability.