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Whats new in 3.2?

What's new in 3.2?

Posted: 3 May 2017

We have added several frequency resources links to the variant frequency table on the variants page.

  • Beacon: enabled searches in the global beacon network

    Note: this is only outgoing queries and does not expose any variants in Scout.

  • GnomeAD: the new version of EXAC, which includes approximately 120,000 exomes and 15,000 genomes. We will include gnomeAD in the MIP analysis and the rank model in a future update, but the gnomeAD browser is available from Scout now.

  • SweGen: frequencies from 1000 Swedish genomes sampled from the twin registry. Created by SciLifeLab.

  • LocusDB family link: It is now possible to see in, which other families a variant in LocusDB were detected.

New feature: Upload all variants for a region or a gene

We have done some work on the variant uploads for this release. This also means that we are now ready to accept requests to upload additional variants for a custom gene or a region. For now you can raise it by submitting a ticket in the ticketing system while we work out how to better integrate it in Scout.

New feature: Upload new gene panel

You can now upload a new gene panel directly in Scout. You will need a semi-colon (;) separated file following the format: