GENOMNIS

My email validation link is too old, how can I gate a new one?

Go to the Login webpage and request a new email activation link.

Where should I go to buy tickets?

To buy tickets, you first need to have a validated account. You thus need to Register, Validate your email and wait for your account activation by the Genomnis team. Once you have a validated account, Login to your account. Now you have access to the "Buy credits for HSF" option from the "HSF" Menu. Alternatively, you can go to your account and acces to your profile with the blue icon on the right of the menu. As shown below, you have the summary of your available tickets /licenses and can buy tickets with the blue cart button at the bottom:

I am not able to validate my email, what should I do?

1. When you click on the link to validate your email, it automatically opens the corresponding page in your default browser. if this browser is too old, it may not be compatible with the recent html standards used in HSF Pro. To solve this issue, copy the link and paste it into another browser. 2. I never received the confirmation email. Various situations may explain this problem: - Our email has been rooted to your spam box - You registered with an incorrect email - Your institution filtered our email. Please contact your institution IT department to know how to proceed

How can I register to HSF?

To register to use HSF, please go to the "HSF" menu and select the "Access HSF" sub menu. Here you will either be able to register or to login.

Who is allowed to get free academic tickets?

Only academic institutions performing research can be granted the "academic" status. People working in Hospitals cannot be granted this status. In fact hospitals perform clinical/molecular diagnosis, which are charged to the public health system, patients or private insurances. By doing so hospitals are therefore competing with private diagnosis laboratories that also perform such diagnosis. Therefore, in order to maintain fair business in accordance to legislation, the HSF Pro system has to be charged both to private diagnosis laboratories and hospitals (public or private) or any other commercial entity. If your activity is performed only in a university or a research laboratory, please provide the corresponding affiliation as we can not consider hospitals as non-commercial entities.

How can I interpret the HSF-Pro results?

To understand the various HSF-Pro scores, you can read the HSF original publication. In summary you can apply the following rules:

• Splice sites
  • Each mutation predicted to affect a splice site is characterized by 3 scores: the wt CV (consensus value), the mutant CV and the ∆CV.
    • A sequence is considered as a potential splice site if its CV is superior to 60 using the HSF splice site matrices. You can consider that splice sites with a value of 60-80 correspond to weak sites; 80-90 to average sites; >90 to strong sites. For MaxEntScan, a weak site will have a value of 3-6; a medium site 6-9 and a strong site >9.
    • Nevertheless, the most important value is not the mutant CV but the ∆CV that should be >+/-10% to result in the disruption or the creation of a splice site.
    • For example a mutation transforming a wt CV of 100 to a mutant CV of 85 (∆CV=-15%) should be considered as a mutation with a strong impact on the corresponding splice site even if the mutant CV of 85 correspond to a strong splice site.
  • This information is not sufficient to conclude about the possible impact on the splice site. You also need to consider if the mutation impacts the acceptor or the donor splice site.
    • For the donor splice sites, there is no rule and every prediction should be considered for confirmation at the RNA level.
    • For acceptor splice sites, you need to consider the position of the mutation. In fact you have to keep in mind that the Branch point will select the closest 3' acceptor site (with a minimal distance between the 2 of around 20 bases).
      • If your mutation creates a new splice site between the Branch point and the wt site, it will most probably be chosen (if the distance is ok)
      • If your mutation creates a new splice site donstream of the wt site, it will most probably not be used by the cell except in a very specific situation when the mutation also disrupt the ESR balance to silence the wt site.
• Branch Points
  • HSF-Pro has already computed all natural branch points for all exons. Only mutations significantly disrupting those signals will be displayed.
• ESE-ESR
  • HSF-Pro now provides an integrated vision of all auxiliary signals potentially modified by a mutation. For more information, please go here.