Genotyping Order Entry Help

Start a New Batch

'*Note: Genotyping Orders can be created only if study exists

• Click on Batches
• Click on New Batch
• Click New Order underneath the Actions column for the appropriate Study

Order Services - Order Type

1. Select the Order Type to be placed with the help of the radio buttons for the various platforms.

1. Click on Next Step

For Ordering Services on Sequenom Platform, follow the steps below on SNP Submission. For Illumina Platform or Other Services skip to Batch Definition.

Step 1 of 10: SNP Submission

Upload SNP File

1. Click on Cancel button to cancel the current operation at any time and to go back to the previous screen.

1. Click on the here button (see image above) to download the template file (see next page for a more detailed description of this file)

1. Once you have filled out the SNPs file, Click Browse, a dialog should appear, navigate to the location where the excel sheet you just created is stored. Select the file.

1. Click Upload Files

Sample SNPs File Template

• Note: Validation is also run when the file is uploaded. If the Marker Names or Sequences are incorrect, you will not be able to upload the file.

1. Do not change/delete the first 3 rows in this template
2. Fill in the Marker Names. The names must be EXACTLY the names of the sequences provided for assay design
3. Fill in the Sequences
4. Fill out any Hugo Symbols and RS Numbers (Optional)
5. When you have finished entering your data, click on the Validate SNP Syntax. This will validate the following:
   • Marker Name must be unique and can contain only letters, numbers, underscores, hyphens and periods with a maximum of 50 characters
   • Sequences must be unique and can have only A, G, T, C and N's and the SNP of interest should be represented as [A/G] or [-/T] or [C/-] or [A/T/C]
   • SNP should be flanked by at least 100 bases on either side (If the flank contains more than 100 bases, it will be trimmed down to 100 bases)
6. Once validation is complete, save the template as an Excel (xls) file.

Confirm SNP File Digestion

*Note: If markers with same name are uploaded, then they would have the name appended with date. (MarkerName_mmddyy).

1. To upload another SNP file, click Upload Again
2. Once you have finished uploading your files. Click on Confirm and Save