Linking phenotype with genotype

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Science  26 Feb 2021:
Vol. 371, Issue 6532, pp. 902
DOI: 10.1126/science.371.6532.902-b

In humans, it is difficult to work out how natural selection affects phenotypic variation. With the accumulation of huge repositories of human genetic data and new computational methods, the impact of medical conditions and their evolutionary importance can be estimated. One challenge is that many complex diseases are linked to phenotypes with common and widely occurring genetic variants. Vy et al. predicted the overall number of deleterious genetic variants in coding proteins (known as the deleterious load) within individuals from the UK Biobank. Although overall deleterious load is not linked with any specific disease states, the authors found statistically significant associations between 27 traits and phenotypes associated with disease, including body mass, metabolic rate, and adiposity. Thus, the accumulative effect of deleterious load might be a useful indicator for general health.

PLoS Genet. 17, e1009337 (2021).

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