I'd like to leverage off of Julie's question yesterday and ask about classifying variant pathogenicity. As all of us in human genetics are well aware, determining whether a variant is pathogenic is an incredibly challenging task. What criteria are used for determining whether a variant is pathogenic? Given that many "Mendelian" variants are now known to be quite incompletely penetrant, how is the reduced penetrance taken into account? Also, variants often have markedly different effects depending on family history (e.g. Factor V Leiden), ethnic background, and other factors. How are these additional factors taken into account? Is ClinGen working to develop new tools to facilitate this process?
Easy one-click social registrationIs this safe?
We only receive the minimum information necessary to verify your account. We never get access to your friends/contacts or your profile, and we never post on your behalf. Your social account is used for logging in only.ORRegister via email
Send me updates on this challenge
In order to ensure a fair voting process and to make sure that no one votes more than once, we ask that you register either with a social networking account (easiest, only requires one click) or by registering with your email address (this will require you to click on a verification email that we will send you).
You only need to register once.