Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine
Kévin Yauy, François Lecoquierre, Stéphanie Baert‐Desurmont, Detlef Trost, Aïcha Boughalem, Armelle Luscan, Jean‐Marc Costa, Vanna Géromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphaël Lanos, Quentin Fort, Stenzel Cackowski, , Nicolas Philippe
Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.
Genetics in Medicine · Mar 17, 2022Peer-reviewedGenetic & Genomic Medicine