Sample screen

Assigning samples

A sample can be assigned to a specific member of the lab, by using the Assigned to drop-down menu on the Samples overview screen. The assigned scientist can be changed at any moment. Assignment of a sample is recorded in the Sample logs.

Filtering samples

On the sample screen, the full list of samples can be filtered to samples of relevance based on the assigned account member (All/My samples), sample status (Open/Closed) or based on Projects. Filters are available on top of the samples screen.

Sample status

You can keep track of the progression of the analysis of a sample with the Sample status. The Sample status is indicated on the Samples overview page and can be changed by using the drop-down menu next to the Reanalysis button on the Analysis screen. The Sample status can be changed at any moment depending on how the analysis proceeds:

  • Imported: This is the status of every newly imported sample, when no patient info is available yet.

  • Ready for analysis: This status is indicated after entering all necessary input data for analysis.

  • Queued for analysis/Analysing: This indicated the sample is currently being analysed.

  • Completed: The results are now ready for manual review.

  • Closed: When the analysis of a sample is completed, the sample can be closed. Depending on the result of the analysis, a sample can be closed as being solved, negative or VUS.

  • Analysis failed: This status indicates that the analysis failed. This can be due to either VCF format issues. In case the failure persists, please contact support.

The different tabs on top of the Samples overview screen allow you to only view a selection of samples based on the closed status.

The search field at the top right of the samples screen, allows to search for specific samples based on sample name, shortlisted gene name (in both SNV or SV/CNV tab) or input HPO term (as text or HP ID). Selecting a sample from the search menu directly brings you to the most recent results for that sample.

Adding samples to projects

Existing samples

Existing samples can be added to one or multiple projects of choice by following the steps below:

  • On the sample overview screen, select one or more samples that you want to add to the same project, by clicking in the area next to the sample name.

  • Upon selecting the samples, a new drop-down menu appears at the top right of the list of samples.

  • Use the drop-down menu to select the Project to which you want to add the select the samples.

  • A confirmation will appear to indicate that the selected samples have been added to the selected project.

These steps can be repeated to eg. add samples to multiple projects.

New samples

You can directly upload samples within a given project. To do so, go to the project overview page and click the Project name of interest. This will show you the list of samples currently included in the project. When uploading new samples with the New Samples button shown on this screen, the newly uploaded samples will automatically be added to the selected project.