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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

Vincent D. Ustach; Maria J. Guillen Sacoto; Stephen McGee; Vladimir G. Gainullin; Kevin Arvai; Amber Begtrup; Flavia M. Facio; Matthew Greenberg; Hákon Guðbjartsson; Kirsty McWalter; Francisca Millán; Kristin Monaghan; Kyle Retterer; Gabriele Richard; Nadav Topaz; Rebecca Torene; Britt Johnson; Timothy Laurent
Human Genetics · Vol. 145, Issue 1 · 2026

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2026-12-01
Publication Year2026
Volume145
Issue1
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-025-02797-z

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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