Article
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.
Human genetics - 16 Feb 2026
Ustach Vincent D, Guillen Sacoto Maria J, McGee Stephen, Gainullin Vladimir G, Arvai Kevin, Begtrup Amber, Facio Flavia M, Greenberg Matthew, Guðbjartsson Hákon, McWalter Kirsty, Millán Francisca, Monaghan Kristin, Retterer Kyle, Richard Gabriele, Topaz Nadav, Torene Rebecca, Johnson Britt, Laurent Timothy
Abstract excerpt
A challenge for clinical exome and genome sequencing (ES/GS) analysis is correlating the clinical presentation of the cases being tested with known gene-phenotype associations (GPAs). We developed Multiscore, a gene prioritization tool, to facilitate gene-level predictions of phenotypic fit. Multiscore combines data inputs and algorithms to generate similarity subscores that feed a random forest (RF) classifier...
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