Such a lot has happened in the past 25 years, and not all of it could be covered here, but we were able to pick out a few strands #humgen25 2/n
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Much of the history of human disease genetics has been distorted by spurious polarization into monogenic & polygenic realms. The explosion of sequence data, & massive biobanks has exposed the continuous spectrum of effects that lie between
#humgen25 3/nPrikaži ovu nit -
Genetics reached genome-scale early, but functional assessment of the variants discovered more resembled hand-to-hand combat. A proliferation of new tools and strategies is now starting to deliver mechanistic inference at scale
#humgen25 4/npic.twitter.com/ApkVAePJVW
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We always seem surprised by how long it can take for research potential to translate into clinical practice. But in some areas – neonatal & tumor sequencing, NPT – implementation has been rapid & transformative.
#humgen25 5/npic.twitter.com/7T1R42Vvd7
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The pace of technological development makes prediction tricky. We call out a need for collaborative research to deliver (a) comprehensive inventories of genotype-phenotype relationships across populations and environments
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(b) systematic assays of variant- and gene-level function across cell types, states and exposures; (c) scalable strategies for developing molecular, cellular and physiological models of disease pathogenesis
#humgen25 7/nPrikaži ovu nit -
and (4) translation of biological insights into novel preventative and therapeutic options. Crucially, all this needs to strike the right balance between individual and collective risks and benefits.
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Thanks to
@MelinaClaussnit@skathire@HeidiRehm@splon@ceclindgren@JudyCho7@NancyGenetics@EimearEKenny@dgmacarthur@JShendure@nicolesoranzo and othersPrikaži ovu nit
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I enjoyed reviewing this article / commentary and it was great having some back and forth on a number of points - constructive dialectic. You and co-authors did a great job at summarising and putting in perspective a huge amount of progress, and how much more there is to do
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And kudos for the deanonymized review . It was good knowing who reviewer 3 was, though fair to say i would have imputed the identity fairly easily (even though no mention of the tell tale medaka
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