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Genetic Association from RFLPs to Millions of Variant Markers: Unravelling the Genetic Complexity of Diseases

  • Babajan BanaganapalliEmail author
  • Noor Ahmad Shaik
  • Jumana Y. Al-Aama
  • Ramu Elango
Chapter
  • 741 Downloads

Abstract

Genetic association studies moved dramatically from single marker tests to million marker tests on thousands of samples with close collaboration between interdisciplinary scientists, engineers, and bioinformatics experts with statistical groups across many nations. Before the human genome sequence project initiated, less than 100 studies were carried with conventional microsatellite markers. Between 2008 and 2018, more than 2500 genome-wide association studies (GWAS) studies were carried out with increasing numbers of markers on thousands of samples. Meta-analysis of a group of GWAS on many complex diseases has been emerging in the last 2 years with over 250,000 genotyped samples with more than one million variants. This rich data reveals unprecedented number of risk loci for many complex diseases in major populations. This trend will grow even more with other multi-omic technologies joining the race to translate the risk loci to a functional role for the better healthcare of the population.

Keywords

Susceptibility locus Complex disease Polygenic disease Association study population genetics Human genome Genetic markers Microarray 

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Authors and Affiliations

  • Babajan Banaganapalli
    • 1
    Email author
  • Noor Ahmad Shaik
    • 1
  • Jumana Y. Al-Aama
    • 1
  • Ramu Elango
    • 1
  1. 1.Princess Al-Jawhara Center of Excellence in Research of Hereditary DisordersDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz UniversityJeddahSaudi Arabia

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