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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Molecular genetic studies of complex phenotypes.

Ali J Marian1

  • 1Center for Cardiovascular Genetics, Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center and Texas Heart Institute, Houston, TX 77030, USA. Ali.J.Marian@uth.tmc.edu

Translational Research : the Journal of Laboratory and Clinical Medicine
|January 17, 2012
PubMed
Summary

Genomic studies have shifted from common variants to rare variants for complex traits. Advanced DNA sequencing now identifies both common and rare variants, improving our understanding of genetic architecture.

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Molecular genetic studies of complex phenotypes have evolved significantly.
  • The candidate gene approach has been replaced by genome-wide association studies (GWAS).
  • GWAS, based on the common disease-common variant hypothesis, identifies SNPs but often not causative variants.

Purpose of the Study:

  • To review the progress and limitations in identifying DNA sequence variants (DSVs) associated with phenotypic effects.
  • To highlight the shift towards the rare variants-common disease (RV-CD) hypothesis.
  • To discuss the role of advanced DNA sequencing in understanding complex phenotypes.

Main Methods:

  • Review of current literature on genetic association studies.
  • Discussion of genome-wide association studies (GWAS) and DNA sequencing techniques.
  • Analysis of the common disease-common variant (CD-CV) and rare variants-common disease (RV-CD) hypotheses.

Main Results:

  • GWAS identified SNPs associated with complex phenotypes but often in linkage disequilibrium with causal variants.
  • Common variants identified by GWAS explain only a fraction of trait heritability.
  • The focus is shifting to rare variants, which may have larger effect sizes.

Conclusions:

  • Advanced DNA sequencing technologies enable the identification of both rare and common variants.
  • Sequencing approaches, alone or with GWAS, can define the genetic architecture of complex phenotypes.
  • Robust phenotyping and large-scale sequencing are crucial for linking genotype to phenotype and extracting clinical information from DSVs.