We've recently added a new step in our pipeline to use the genetic data to predict the degree of relatedness, sex and ancestry. This is particularly useful as a quality check to spot potential sample mix ups, poor DNA quality, contamination, errors in patient details provided etc. In the event of a possible error, users are automatically notified with the reports attached in the email for further investigation. We are currently running the reports retrospectively for all of our previous data sets and have already found a some data entry errors. In such cases, we may want to rerun the pipeline analysis as such errors can affect the variant prioritization. These reports are also available as downloads in the 'datasets' section.
Showing posts from August, 2018
- Other Apps
Previously when combining filters on predictions and scores, the search automatically separated each filter on a conditional AND by default. The change we've made recently, is to allow users to specify the logical operator (AND/OR) between the prediction and scores filters such that you can query the database by saying give me all the variants that have polyphen prediction 'probably damaging' OR clinvar prediction 'pathogenic' in a single query. Previously, if you had to do this, you would run separate searches for each polyphen and clinvar.