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0 pointsejstronge10mo ago0 comments

> SOTA seems to use huge population data to infer causality within each linkage block of interest in the genome.

This has existed for at least a decade, maybe two.

> There is a concerning gap between prediction and causality.

Which can be bridged with protein prediction (alphafold) and non-coding regulatory predictions (alphagenome) amongst all the other tools that exist.

What is it that does not exist that you "found it disappointing that they ignored"?

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nextos10mo ago

> This has existed for at least a decade, maybe two.

Methods have evolved a lot in a decade.

Note how AlphaGenome prediction at 1 bp resolution for CAGE is poor. Just Pearson r = 0.49. CAGE is very often used to pinpoint causal regulatory variants.