Frequently Asked Questions (FAQs)

How should I cite the dataBBaSe?

If you are using this database, please, consider citing our paper.

  • Niederlova, V., Modrak, M., Tsyklauri, O., Huranova, M. and Stepanek, O. (2019). Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl Syndrome uncovers differences among causative genes. Human Mutation. Accepted Author Manuscript. [doi:10.1002/humu.23862]

If you intend to use the individual participant data, please see also all the included studies.

What is the meaning of the column names in the dataBBaSe?

Please, see the Documentation for the description of data in each column.

I would like to contribute. Is it possible to add patient data to the dataBBaSe?

If you wish to help us by contributing to the database, please download and fill in the databbase-template and send it to bardet-biedl@img.cas.cz.

The instructions about evaluating particular phenotypes can be found in the template file or in the Documentation.

Will the dataBBaSe be updated?

The database was released in May 2019. We will make updates every time we receive new patient data, but regular releases of new versions are not planned. If you know about some relevant published data which is missing or if you would like to contribute by adding data from your publication, please contact us.

I have found some errors in the dataBBaSe! Will you correct it?

Yes, absolutely! We will appreciate if you let us know about any kind of bugs and mistakes as well as general comments and suggestions. Please contact us.