polygenic risk scores

Sek Kathiresan

Polygenic risk scores have burst onto the scene in 2018, not because they are new (they are not) but because after years of discouraging and anemic results, it seemed that perhaps this sort of amorphous “risk in your genes” -- the risk that remains after Mendelian variants are ruled out – was not something we would ever be able to quantify. And now, some new work is challenging that assumption. Can we make predictions based on tiny effect sizes in thousands of genes? It looks like the answer may be yes – and that ”yes” (even with caveats) brings us rather abruptly into a conversation about the when, where and why of clinical use.

When it comes to PRS’s, Harvard’s Dr. Sekar Kathiresan is the man of the hour, and we are very pleased to have him joining us here on the Beagle.

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