Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Somayyeh FahiminiyaSpyros OikonomopoulosGeorges-Etienne RivardMira GandhiPatrick ScottAlexandre MontpetitShu-Huang ChenKyungHee ParkCatherine VezinaJiannis RagoussisClaudia M B CarvalhoGrant A MitchellJean-Francois SoucyJulie Gauthier

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2023)

Keyphrases

high resolution
early onset
high speed
contrast enhanced
genome wide
high density
drug induced
magnetic resonance imaging
gene expression
dna methylation