New review: An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health

A new review paper by the mighty @marie_saitou on the difficulties and promises in integrating evolutionary framework and investigation of genomic structural variants.

We talk a lot about how structural variants of different types likely affect function and have evolutionary impact on human phenotypic variation. But, we keep missing these signatures because: 1. They are hard to detect, 2. They evolve in complex ways, 3. They are hard to impute, 4. Their functional impact generally depends on genomic and environmental context.

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