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Genome-wide association studies in nephrology: are we there yet?.

Author

Michael  O. Baclig

Related Institution

Research and Biotechnology Division - St. Luke's Medical Center

Publication Information

Publication Type
Journal
Title
St. Luke
Frequency
Quarterly
Publication Date
January-March 2014
Volume
9
Issue
1
Page(s)
73-78

Abstract

Genome-wide association studies (GWAS) have emerged as a novel and powerful genotyping technique to identify risk variants for complex traits. 


The objective of this article is to provide an overview of GWAS and summarized the recent discoveries identified by GWAS for various kidney diseases.


The human genome project is a coordinated international work that led to the consensus sequence of the genome in 2001. The draft sequence of the human genome was published in Science and Nature. According to Francis Collins "As striking as these images were, they could be seen as more art than science, because genome-wide sequencing had yet to be applied to individuals for medical purposes" (Collins 2011). A year late, the International HapMap Project, which aims to catalog common genetic variations in humans was initiated. In 2005, millions of single nucleotide polymorphisms (SNPs) were deposited in SNP database (dnSNP) through the National Center for Biotechnology Information. Also in 2005, high-throughput genotyping technologies were developed. These advances in genomics set the stage of the year of GWAS in 2007. Furthermore, whole genome resequencing of 1000 individuals was initiated in 2008. In 2011, the Pan-Asian Population Genomes was initiated.


We must therefore find out the answers to the following questions: What is GWAS? What's in it for me? Has the revolution arrived or are we there yet? What are the challenges ahead, and what have we learned.

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