The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.

Malek BouassidaDenise Molina-GomesFairouz KoraichiBérénice HervéMorgane LhuilierClémence DuvillierJessica Le GallMarion Gauthier-VillarsValérie SerazinThibaud QuibelRodolphe DardFrançois Vialard

Published in: Molecular genetics & genomic medicine (2024)

Along with an increase in diagnostic rates, OGM can rapidly highlight genotype-phenotype correlations, improve genetic counselling and significantly influence prenatal management.

Keyphrases

genome wide
pregnant women
high resolution
copy number
smoking cessation
hiv testing
dna methylation
high speed
gene expression
hepatitis c virus
human immunodeficiency virus
antiretroviral therapy