Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Gregory MougelAmira MohamedNelly BurnichonSophie GiraudPascal PignyBrigitte Bressac-de PailleretsDelphine Mirebeau-PrunierAlexandre BuffetFrédérique SavagnerPauline RomanetYannick ArlotBetty GardieAnne-Paule Gimenez-RoqueploChristophe BeroudStéphane RichardAnne Barlier

Published in: Journal of medical genetics (2023)

Consequently, this work has allowed the diagnosis and influenced the genetic counselling of 45 VHL-suspected families and can benefit to the worldwide VHL community, through this review.

Keyphrases

copy number
machine learning
healthcare
deep learning
mental health
genome wide
emergency department
smoking cessation
gene expression
hiv testing
human immunodeficiency virus
men who have sex with men
antiretroviral therapy