Article

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

2021-01-04

Abstract excerpt

<h4>Background</h4> Many thousands of patients with a suspected Mendelian disease have their exomes/genomes sequenced every year, but only about 30% receive a definitive diagnosis. Since a novel Mendelian gene-disease association is published on average every business day, thousands of undiagnosed patient cases could receive a diagnosis each year if their genomes were regularly compared to the latest literature. W...

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Literature Corpus work: 54685085-a18b-5791-a1b6-641bb8fbaea4
DOI: 10.1101/2020.12.29.20248974

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