Whats new in 3.2?
What's new in 3.2?
Posted: 3 May 2017
New feature: Frequency links
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:
HGNC_symbol;HGNC_IDnumber;Disease_associated_transcript;Genetic_disease_model;Reduced_penetrance;Mosaicism;Clinical_db_gene_annotation ANKS6;26724;NM_173551.3;AR;;;PEDHEP XPNPEP3;28052;NM_022098.3;AR;;;PEDHEP DCDC2;18141;NM_016356.4;AR;;;PEDHEP CLDN1;2032;NM_021101.4;AR;;;PEDHEP ...