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:
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