[Decipher-announce] DECIPHER Early August 2017 Newsletter
jf11 at sanger.ac.uk
Thu Aug 3 09:51:17 BST 2017
Greetings from a cloudy and blustery Cambridge.
In this newsletter:
- DECIPHER version 9.16
DECIPHER version 9.16
You can also view this on the web at: http://decipher.sanger.ac.uk/news
In this release, patient sequence variants shown on the DECIPHER website are now normalised to facilitate the comparison of patient variants with variants from other resources. The same variant can be represented in multiple ways by different systems. Variants in DECIPHER are now left aligned and parsimonious, as described in Tan et al. 2015. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481842/).
Sequence variants that have been normalised are indicated by a question mark icon next to the variant in the genotype table. Clicking on this icon provides information on the original and normalised variant location/alleles.
DDD research variants, ClinVar variants and gnomAD variants shown in the genome and protein browsers are also normalised using the same method as DECIPHER patient variants, allowing users to more easily identify matching variants.
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.
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager
Email: decipher at sanger.ac.uk
-------------- next part --------------
An HTML attachment was scrubbed...
More information about the Decipher-announce