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Mark I. McCarthy, MD

Mark I. McCarthy, MD

Is complex trait genetics experiencing a revolution or an evolution? Professor Mark McCarthy, from the University of Oxford, UK, outlines how the intersection of biobank capabilities, new study designs, and technological advances will improve our understanding of complex trait genetics.

Over the last few years, the genetics literature has featured a robust debate on the relative success or failure of genome-wide association studies (GWAS). It is clear that, even with over 2,000 significant GWAS loci reported across hundreds of traits, there is still much to do to dissect the genetic architecture of many common diseases.

The next chapter of complex genetics looks particularly exciting. Sequencing and genotyping technology advances are expanding our knowledge of genomic variation in human populations. Visionary initiatives, like UK Biobank, offer access to new phenotypes, outcomes data, and the opportunity for new and powerful study paradigms.

Recently, Affymetrix talked with Professor Mark McCarthy about the past, present, and future of complex trait genetics. As a key member of the team that recently designed UK Biobank's genotyping array, Professor McCarthy also gave his view on how our knowledge of population variation, imputation-based data analysis, disease, and biological function should be integrated into the design of state-of-the-art studies and the genotyping arrays that enable them.

There's no doubt that designing a scaffold using an imputation-aware, multi-marker tagging approach is a much more efficient way to achieve coverage.
Read the full article. Download the pdf version to enjoy the article in its entirety and also keep it for future reference. Avaliable in PDF (369 KB)

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  • Scientist Spotlight (pdf, 369 KB) Integrating knowledge of population variation, imputation-based data analysis, disease, and biological function to advance complex trait genetic studies.

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