Greetings from a windy, rainy East Anglia.
In this update:
- DECIPHER v11.3 Released
DECIPHER v11.3 Released
You can also view this on the web at: https://www.deciphergenomics.org/about/news
Gene Curation Coalition (GenCC) Database gene-disease validity information is now
displayed on gene pages. GenCC (https://thegencc.org
) aggregates evaluations of
gene-disease relationship validity from a variety of sources. Gene/disease association
information for SCN2A, including GenCC data can be viewed here:
In the transcript track in the genome browser, users can now choose to display either the
Ensembl transcript names (e.g. SCN2A-202) or Ensembl transcript IDs (e.g.
ENST00000375437.7). The preferred display can be selected using the dropdowns on the
right-hand-side of the track. In addition, codon phase is displayed in the transcript
popup. Codon phase is the position of an exon/intron boundary within a codon. This is
particularly useful for single-exon deletions/duplications: where the start phase and end
phase differs, such variants will cause a frameshift. These additions can be seen for
SCN2A here: https://www.deciphergenomics.org/gene/SCN2A/browser
Depositors can now add notes alongside their pathogenicity evidence for both copy-number
variants and sequence variants. These can be used to indicate the reason for applying
particular criteria or strengths, for the benefit of others in the depositing centre
reviewing the case.
It is now possible to indicate that a patient has died by entering the age of death when
creating a patient record or editing it from the patient overview tab.
We look forward to your feedback and suggestions for improvement. Please use the
"Feedback" button which is available on every page and fill in the simple form
to get in touch with us. Your details will be filled in automatically if you are logged
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager