ClinVar is a free, public resource you can use to research the clinical significance of genetic variants. Many people visit ClinVar multiple times a day! We previously announced an upcoming enhanced search experience and new ClinVar homepage, and these improvements are now live. 

What’s new?  

Search enhancements 

The new search interface provides different search boxes for the types of terms typically used to search ClinVar. These search boxes provide additional help with syntax. One or more terms can be combined to create more complex searches. A “more search options” section can also be expanded to enter more atypical terms.   Continue reading “ClinVar’s New Search Interface and Homepage are Here!” →

ClinVar is pleased to announce that our improved representation of functional data is live on the website, in file submissions, and in downloadable XML files. The following documentation is provided to facilitate future submissions and downloads:

• Instructions for submitting functional data in our Excel submission templates
• Updated submission templates
• Updated XSD for downloadable XML files

Continue reading “Now Live: Improved Representation of Functional Data in ClinVar!” →

As previously announced, NCBI is improving the ClinVar homepage to serve as a better introduction to data and services within the resource. We are also enhancing your search experience in ClinVar!  

Search enhancements 

We are introducing a multiple box search interface where you can enter one or more terms. Each box will be labeled for the type of term that can be entered there. For example, if you search by gene only, you will be able to enter one or more genes in the Gene search box. Each search box will have examples available to demonstrate how to format certain search terms. Continue reading “Coming Soon: ClinVar Search Enhancements” →

Many people visit NCBI’s ClinVar site every day, multiple times a day. As the field of clinical genetics advances, more and more new visitors also come to ClinVar to research the clinical significance of genetic variants. Based on feedback from new and existing customers, we are improving the homepage to serve as a better introduction to data and services within the resource.  

What’s new? 

Improved ClinVar homepage: 

The new ClinVar homepage will allow users to become familiar with the ClinVar data model – how we store and aggregate the data provided by submitters – as well as the organizations that submit data to ClinVar. Visitors can also browse the various methods used to access data in ClinVar.  Continue reading “Coming Soon! Enhancements to ClinVar Homepage” →

We want your feedback! 

As previously announced, NCBI is improving the way that functional data are submitted to ClinVar and how they are represented in the XML format and on the website. We have started enhancing support for functional data and would like your feedback!  

What’s new? 

We have updated the GitHub repository with: 

• Updated submission templates  
• Updated XSDs and sample XML files  

Continue reading “Update! Improving the Representation of Functional Data in ClinVar” →