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Unlocking the Human Genome: Innovative Machine Learning Tool Predicts Functional Consequences of Genetic Variants

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In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.

Unlike current methods that predominantly focus on loss of function, LoGoFunc distinguishes among different types of harmful mutations, offering potentially valuable insights into diverse disease outcomes. The findings were described in the November 30 online issue of Genome Medicine.

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