Dear All,
Greetings from a warm and sunny East Anglia.
In this update:
- DECIPHER v11.4 Released
DECIPHER v11.4 Released
=============
You can also view this on the web at: https://www.deciphergenomics.org/about/news
Users can now record for different tissue types, the proportion of mitochondrial DNA carrying the variant, or for nuclear de novo mosaic variants the proportion of cells carrying the variant. This information is displayed in the genotype table.
Links to additional ClinGen expert panel specifications for ACMG/AMP variant interpretation are now displayed. These include a link to the Malignant Hyperthermia Susceptibility Variant Curation Expert Panel when annotating a variant in RYR1. When a user enters pathogenicity evidence, a link to the relevant guidelines is shown.
The genome browser gnomAD structural variant track is now displayed by default for sequence variants. This dataset includes small structural variants, such as mobile element insertions, which could be relevant when interpreting sequence variants.
The "Gene disorders" list has been changed to "GeneReviews" to ensure clarity over the source of the data. This change is reflected on gene pages and can be seen for the CDK13 gene page here: https://www.deciphergenomics.org/gene/CDK13/overview/clinical-info
=============
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 in.
Best Regards
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager
Email: contact(a)deciphergenomics.org
Web: https://www.deciphergenomics.org
Twitter: @decipher_wtsi
Dear All,
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: https://www.deciphergenomics.org/gene/SCN2A/overview/clinical-info
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 in.
Best Regards
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager
Email: contact(a)deciphergenomics.org
Web: https://www.deciphergenomics.org
Twitter: @decipher_wtsi
