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University of Cambridge >  Strangeways Research Laboratory >  Genetic Epidemiology Unit> BOADICEA Home> BOADICEA Web Application

BOADICEA Web Application

The BOADICEA Web Application (BWA) makes BOADICEA risk calculations much quicker and easier in a clinical setting. The new software has been designed in collaboration with clinical geneticists and researchers and offers several advantages:

  • Unlimited access to BOADICEA via the Web
  • No specialist knowledge required to estimate risks
  • Risks are computed at the push of a button
  • Users can build simple pedigrees online or upload large/complex pedigrees for processing
  • Input pedigrees are checked for data errors and inconsistencies
  • Pedigree drawing module
  • Automatic processing report generation
  • Pedigrees built online can be saved for later use
  • Unified workflow means no need to swap between different software packages
  • Clinical data are transmitted across a secure Web connection
These features are described in more detail below.


Processing workflow

The BWA is based on a simple workflow:

  • Login to a secure Web site
  • Create or upload a pedigree data set
  • Review the pedigree data before processing
  • Calculate mutation carrier probabilities and cancer risks
  • Download pedigree data and results
  • Delete data from server and logout

This workflow (Figure 1) saves time by streamlining the risk estimation process. You can build or upload your pedigrees, tabulate your data, generate pedigree drawings, run BOADICEA risk calculations and save your results without having to swap between different software packages.


Figure 1. BOADICEA Web Application workflow. This chart shows the activities which comprise a typical BOADICEA Web session. This "unified" workflow is been made possible by component based software development: our novel risk calculation programs have been combined with third party software to enable the BWA to perform a range of different processing tasks.



Building simple pedigrees online

At the start of a BWA session, you can choose to either: (1) build a simple pedigree online, or (2) upload a large/complex pedigree for processing.

Pedigrees built online are currently limited to a basic set of 1st and 2nd relatives (a sample pedigree built online is shown in Figure 2). However, the next version of the software (BWA version 2.0, coming soon) will include fast and flexible online pedigree building beyond 2nd degree (see here for more details). The screenshots shown here were generated with this new software.


Figure 2. Sample pedigree built online with the BWA.


When you build pedigrees online, the BWA generates a series of Web pages that are used to capture details of individual family members. The data collection scheme is intended to mimic the way that family history data are collected in clinical genetics departments. We have designed the forms so that they (1) respond intelligently to user inputs, and (2) check that the input data are self-consistent (example shown in Figure 3)




Figure 3. The Consultand Web page. This form is one of a series of Web pages used to capture family history data.



Uploading complex pedigrees for processing

Users often need to process large/structually complex pedigrees. As a result, the BWA includes a module to upload pedigree data sets for processing (Figure 4). Pedigree data sets are uploaded in a simple Tab delimited text format that can be generated by exporting pedigrees from a spreadsheet or database.


Figure 4. The Pedigree File Upload Web page.



Reviewing pedigree data

Once you have built or uploaded your pedigree, you can review the tabulated data online (Figure 5). The BWA lists the pedigree data in the conventional way, with identifiers (data triplets) describing family structure and accompanying phenotypic information.




Figure 5. The Pedigree Table View   Web page. This Web page lists the input pedigree data in a summary table. The target (index or subject of the risk calculation) is marked with a grey table row, and the letter 'T' in the 'Tgt' column. The function buttons at the bottom of the Web page enable the user to perform a range of data editing and processing tasks.

The BWA also includes the R/Kinship package [Zhao, 2006] which enables you to generate online pedigree drawings. The pedigrees are drawn in the conventional way: the target (index or subject of the risk calculation) is identified with an arrow; family members who have developed cancer are shaded, and the text beneath each pedigree symbol includes a unique identifier, first name/ID, age at last follow up, year of birth and cancer history (a sample online pedigree drawing is shown in Figure 2).



Calculating mutation carrier probabilities and cancer risks

When you are satisfied that your input pedigree data set is correct, you can submit it to the BOADICEA core program for processing. The BOADICEA core program computes BRCA1/BRCA2 mutation carrier probabilities and breast/ovarian cancer risks on the basis of family history. The BWA greatly simplifies this process, as the BOADICEA risk calculations run at the push of a button. When the calculation is complete, the results are returned in a Computed Results Web page (Figure 6).




Figure 6. The Computed Results  Web page. This Web page shows BRCA1/BRCA2 mutation carrier probabilities and breast/ovarian cancer risks calculated by the BOADICEA core program. Cancer risks are calculated for the target (index or subject of the risk calculation) at 1-year intervals for the next 5 years, and then at 5-year intervals up until 80 years of age.


Saving results

Once you have run a BOADICEA risk calculation, you can download your current pedigree and results from the Processing Report Web page (Figure 7).




Figure 7. The Processing Report  Web page. The links on this Web page enable you to download your current pedigree and results across a secure Web connection.

The BWA also generates a processing report PDF, which includes a pedigree summary table, a pedigree drawing and the computed results (example shown in Figure 8). This document is also accessible via the Processing Report Web page (Figure 7).




Figure 8. Sample BOADICEA processing report PDF.


Logging out

When you have downloaded your results, you can then choose to either process another pedigree or logout (Figure 9). If you choose to logout, all data files generated on the Web server during your session will be deleted in accordance with UK Data Protection Principles.




Figure 9. The Session Completed  Web page. This Web page is returned when you logout, or when the session has been inactive for several hours (times out).


References

Zhao, J.H. 2006 Pedigree-drawing with R and graphviz, Bioinformatics, 22 (8), 1013-1014.


Additional information

For more information on the BOADICEA Web Application, please contact Dr Alex Cunningham (alex@srl.cam.ac.uk) or Dr Antonis Antoniou (antonis@srl.cam.ac.uk).


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