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A brief history of human disease genetics nature.com/articles/s4158… - really useful, timely review by an amazing set of leaders in the field
I have one quibble however, which is the separation of "Rare (monogenic) disease" and "Common (complex) disease" to opposite poles of this diagram:
This dichotomy is artificial. Rare monogenic diseases are always modified by other specific mutations or genetic background. And many diagnostic categories of "complex diseases" really encompass hundreds of rare genetic causes (as well as polygenic effects)
While these classes of disorder have been conceptualised differently and approached with different methodology in the history of the field, I think we know enough now to adopt a more integrative framework
As discussed here for neurodevelopmental disorders: biorxiv.org/content/10.110…
And I should say the authors of the review also clearly point this out as the direction that human genetics is heading:
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