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Clinical Genomicist Workstation

Overview​

Clinical Genomicist Workstation (CGW) is a secure, n-tiered application where web browser submits requests to application servers that persist the data in a relational database. CGW is used by Washington University Genomic and Pathology Services for clinical genomic testing of many cancers. CGW is a 'soup-to-nuts' solution to track, analyze, interpret, and report clinical genomic diagnostic tests.

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Clinical genomicist workstation.

Sharma MK, Phillips J, Agarwal S, Wiggins WS, Shrivastava S, Koul SB, Bhattacharjee M, Houchins CD, Kalakota RR, George B, Meyer RR, Spencer DH, Lockwood CM, Nguyen TT, Duncavage EJ, Al-Kateb H, Cottrell CE, Godala S, Lokineni R, Sawant SM, Chatti V, Surampudi S, Sunkishala RR, Darbha R, Macharla S, Milbrandt JD, Virgin HW, Mitra RD, Head RD, Kulkarni S, Bredemeyer A, Pfeifer JD, Seibert K, Nagarajan R.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:156-7. eCollection 2013.

PMID: 24303327

Per the request of our customers, Labii ELN & LIMS has developed many widgets to perform CGW analysis directly with Labii interface. CGW widgets is developed to create accessions for new cases, create new sequencing runs for cases, upload appropriate data files (VCF/BAM files) for a given sequencing run, begin bioinformatics jobs for generating a pharmacogenomic report, and retrieve reports in pdf format after they have been signed off on by an accredited individual.

Widgets can take full advantages of Labii LIMS (Laboratory Information Management System) to provide sample specific metadata. Labii widgets simplified the usage of CGW with just a few clicks and enabled the documentation of all analysis process.

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Notes: These widgets are private to a certain customer(s) only.

Labii ELN & LIMS currently provides these widgets:

WidgetTypeDescription
CGWCaseColumnCreate a CGW case
CGWUploadFileColumnUpload analysis-related files
CGWJobSectionGenerate a job and report

Before starting​

Here are some settings needed to be configured before starting using the widgets.

Metadata​

CGW is account specific, your CGW authentication information needs to be provided and configured in the organization metadata (Settings -> Organization Detail -> Metadata).

These metadata is required:

  • CGW_INSTITUTION: your account username
  • CGW_EMAIL: your email address to login
  • CGW_PASSWORD: your password
  • CGW_VERSION: v2.0.0

Tables​

The samples and patients are stored in the tables. These tables are required:

  • samples, to store specimen information
  • patients, to store the patient information
  • disease, to store disease code
  • mass, to store the sample type code

Please create the tables with these settings:

Name singularName pluralDescriptionUnique code
samplesamplesSpecimen informationSP
patientpatientsPatient informationPA
diseasediseasesDisease codeDS
massmassesSample type codeMS

Columns​

The columns are used to store the attribution of a table.

Samples:

NameDescriptionWidgetDefault ValueIs Required
dateAccessionedDatefalse
firstNameTextfalse
lastNameTextfalse
dateOfBirthDatefalse
datecollectedDatefalse
dateReceivedDatefalse
genderSelect

unknown

male

female

unspecified

other

ambiguous

not_applicable

false
raceSelect

american_indian_or_alaska_native

asian

black_or_african_american

native_hawaiian_or_other_pacific_islander

not_reported

unknown

white

false
ethnicitySelect

hispanic_or_latino

not_hispanic_or_latino

not_reported

unknown

false
externalSpecimenIdTextfalse
hl7SpecimenIdTextfalse
studyIdentifierTextfalse
studySubjectIdentifierTextfalse
typeSample TypeForeignKeyMStrue
panelNameTextfalse
sampleTypeSelectpatientcaretrue
indicationTextfalse
identifiedBoolean1false
diseaseForeignKeyDSfalse
physiciansForeignKeysPAfalse
accessionNumberTextfalse
caseCGWCasefalse
laneNumber1false
barcodeTextfalse
runTypeThis identifies whether the sequencing was done using paired end or single end.SelectpairedEndfalse
analysis_related_filesCGWUploadFilefalse

Patients:

No specific columns are required. However, the name field have to be:

[First Name] [Last Name]

Disease:

NameWidgetDefault valueIs required
codeNumberTRUE
code_systemTextSNOMED-CTTRUE

Mass:

NameWidgetDefault valueIs required
codeNumberTRUE
code_systemTextSNOMED-CTTRUE

Default Sections​

Add a default section so that all new records will have the same section. The default section is only needed for samples:

  • Job, use the widget of CGWJob

Import data​

If you already have some data for samples, patients, disease, and/or mass, use Import function to import them first.

CGWCase​

CGWCase is a widget to create or update a Case.

Create a case​

Click the edit icon and the widget shall collect all necessary information to create a case. Error message will be provided if certain data is missing.

Click Create Case button to create a case. If successful, a case id will be stored for the column.

Update a case​

The detail of a case can be updated via update a case. To do that, click the edit icon, and then click the Update Case button.

Clear case data​

If for some reason, you want to discard the case and redo the analysis. You can click Clear Case button and then create a new case.

CGWUploadFile​

A *.vcf file needs to be uploaded to initial the jobs. Use this widget to upload a *.vcf file. A case needs to be created first for this widget to work.

CGWJob​

One or more CGW jobs can be created for one sample. Each section of CGWJob can create one job.

Before creating a CGW job, a CGW case need to be created and a *.vcf file need to be uploaded first.

Create a job​

Click Create a job button to create a job.

Once a job is created, the job id will be assigned to the job id.

Cancel a job​

Once a job is created, it can be canceled by clicking Cancel Job button.

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Note: Currently, the CGW API to cancel job is not working.

Check report​

Once a job is generated, the job will start running immediately. It will take around two hours to finish the CGW scripts.

You can use the button Check report to check if the report is complete. If it is complete, a report id will be assigned and you will have the option to download the report.

Download report​

Once a report is completed, the report can be downloaded via clicking Download report button.

The report is generated in PDF format, and zipped in a package [Report Id].pdf.gz.

CGW Workflow​

To start a CGW analysis, please follow these steps. This workflow assumes you have configured everything in Before starting.

  1. Add a new sample, fill in all necessary information.
  2. Create a new case from Case column.
  3. Upload a *.vcf file from Analysis related files column.
  4. Add a new section with widget CGWJob (optional, such section will be created automatically if correctly configured in the default sections).
  5. Create a new job.
  6. Check the report.
  7. Download the report.