Lasse Folkersen (@folkersen.com)

I really liked this commentary. It adresses the circularities in automated variant curation, but also seeks solutions. And I obviously also liked it, because it notes that we still should go beyond that simplistic "yes"/"no" bad pathogenic, good benign approach. www.cell.com/ajhg/fulltex...

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Toward trustable use of machine learning models of variant effects in the clinic Machine-learning-powered predictions of the effect of genetic variants on human disease are becoming increasingly important in the clinic. In this manuscript, we lay down the core principles for their trustworthy validation and implementation and highlight four areas where current practices fall short, offering recommendations for advancing the field. https://www.cell.com/ajhg/fulltext/S0002-9297(24)00380-X