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Whats new in 3.0?

What's new in 3.0?

Posted: 11 April 2017

This updates includes a lot of optimizations to improve performance. We've made significant efforts to make sure the way we store information in the database will scale up with additional features in the future. Here are the highlights:

More responsive interface

Loading pages in the web interface is now much faster. You will notice the case view and variants list show up almost instantly!

Easy access to coverage report PDF

You can now download the coverage report as a PDF directly form the case page with one click!

Revamped gene panel view

When accessing a gene panel you will now see the information regarding disease causing transcripts, reduced penetrance etc. related to each gene. You can also handle updated to the panels directly from this interface. Just add, remove, edit existing genes and commit your changes to automatically update the panel.

Updated variant page

We've made some tweaks to the variant page like moving the OMIM inheritance model to the OMIM panel, linked to each phenotype.

Multiple RefSeq transcripts

The HGNC based gene definitions have been updated. One key difference is that there we can now have multiple RefSeq transcripts per Ensembl transcript ID.