It is time to replace genotyping arrays with sequencing
<p>Over the last ten years, the field of human genomics has made unbelievable progress in identifying genetic variants that influence disease susceptibility and other traits (see, e.g. <a href="http://www.cell.com.sci-hub.cc/ajhg/abstract/S0002-9297(17)30240-9" rel="noopener ugc nofollow" target="_blank">this review</a>). The technological advance that drove this progress was the development of <a href="https://en.wikipedia.org/wiki/SNP_array" rel="noopener ugc nofollow" target="_blank">genotyping microarrays</a>: a technology for the measurement of hundreds of thousands to millions of genetic variants in a single person.</p>
<p>The benefits and limitations of genetic studies using this technology (often confusingly called <a href="https://en.wikipedia.org/wiki/Genome-wide_association_study" rel="noopener ugc nofollow" target="_blank">genome-wide association studies</a> [1]) have been debated since before anyone even tried one (see examples from <a href="http://www.nature.com/ng/journal/v26/n2/full/ng1000_151.html" rel="noopener ugc nofollow" target="_blank">2000</a>, <a href="http://www.nature.com/news/2008/081105/full/456018a.html" rel="noopener ugc nofollow" target="_blank">2008</a>, and <a href="https://www.nature.com/news/new-concerns-raised-over-value-of-genome-wide-disease-studies-1.22152" rel="noopener ugc nofollow" target="_blank">2017</a>). But it’s generally believed that, if one accepts the basic goals and assumptions of a genome-wide association study, the most cost-effective and powerful technology to use is a genotyping array.</p>
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