Bayesian approach to determining penetrance of pathogenic SDH variants.

Diana E BennYing ZhuKatrina A AndrewsMathilda WildingEmma L DuncanTrisha DwightRichard W TothillJohn BurgessAshley CrookAnthony J GillRodney J HicksEdward KimCatherine LuxfordHelen MarfanAnne Louise RichardsonBruce RobinsonArran SchlosbergRachel SusmanLyndal TaconAlison TrainerKatherine TuckerEamonn R MaherMichael FieldRoderick J Clifton-Bligh

Published in: Journal of medical genetics (2018)

Pathogenic variants in SDHB are more penetrant than those in SDHC and SDHA. Our findings have important implications for counselling and surveillance of subjects carrying these pathogenic variants.

Keyphrases

copy number
public health
gene expression
hepatitis c virus
hiv infected
men who have sex with men