Import a Single File From a Network or Local Directory

Some case metadata is required before the VCF can be analyzed. You can add this metadata at the time you upload the file or after the file is uploaded. For information about adding metadata to imported cases, see Manage Cases.

1.

Select the Cases tab.

2.

Select the Import drop-down arrow, and then select Import Analysis File (.VCF) to open the Upload VCF dialog box.

3.

[Optional] Add metadata and assign the analysis result to a project as follows.

1. Select the Include sample details checkbox.
2. To assign the analysis to a project, enter the project ID in the Project field.
3. Enter the Subject ID in the Subject field.
4. Select the Sex drop-down arrow, and then select the biological sex of the subject: Male or Female. If the Subject exists in the registry, this field is automatically filled.
5. Enter the unique ID in the Sample field.
6. Select the Sample Class drop-down arrow, and then select one of the following options:
• Tumor-Only—Establishes a tumor analysis.
• Tumor-Normal—Establishes a tumor analysis using paired and normal samples.
• Germline—Establishes a germline analysis, and is the required setting for each sample used in family-based filtering.
• Unknown—The sample class is unavailable, and the software defaults to a germline analysis.
7. If the Sample Class is tumor type, enter the name for the type of tumor in the Tumor Type field. As you type, a list of possible matches appears.
8. To give the analysis result a name other than the VCF file name, which is the default, enter a unique name in the Analysis result name field.

4.

Select Select VCF.

5.

Browse to the appropriate location, select a file (*.vcf or *.vcf.gz), and then select Open.

6.

Select Submit to import the files.

Variants are annotated during the import.

7.

Select Done to return to the Cases tab.