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Understanding genetic variants in context. | LitMetric

AI Article Synopsis

  • Human genetics has evolved significantly over the last 30 years, shifting focus from rare Mendelian diseases to the intricate genetic factors influencing common diseases.
  • Researchers highlight the critical role of genetic context—including variants, gene regulation, and environmental interactions—in understanding how these genetic variants impact health.
  • The article calls for unified methods to analyze the complex interplay of molecular and environmental factors, proposing that combining cellular, animal, and epidemiological data can enhance our interpretation of genetic variants and improve disease treatment strategies.

Article Abstract

Over the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering the vast and complex genetic etiology of common human diseases. In tackling this complexity, scientists have discovered the importance of numerous genetic processes - most notably functional regulatory elements - in the development and progression of these diseases. Simultaneously, scientists have increasingly used multiplex assays of variant effect to systematically phenotype the cellular consequences of millions of genetic variants. In this article, we argue that the context of genetic variants - at all scales, from other genetic variants and gene regulation to cell biology to organismal environment - are critical components of how we can employ genomics to interpret these variants, and ultimately treat these diseases. We describe approaches to extend existing experimental assays and computational approaches to examine and quantify the importance of this context, including through causal analytic approaches. Having a unified understanding of the molecular, physiological, and environmental processes governing the interpretation of genetic variants is sorely needed for the field, and this perspective argues for feasible approaches by which the combined interpretation of cellular, animal, and epidemiological data can yield that knowledge.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614383PMC
http://dx.doi.org/10.7554/eLife.88231DOI Listing

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