Precision Medicine

• Expression Analysis in RNASeq
• Workflow Walkthrough
• Results Walkthrough
• Genomic Variant Analysis
• Workflow Walkthrough
• Results Walkthrough
• Human Haplotype
• Workflow Walkthrough

Expression Analysis in RNASeq

Workflow Walkthrough

1. Navigate to the Expression Analysis in RNASeq launcher card. You can use the search bar at the top right corner, or use the Precision Medicine, Functional Genomics, or Next Generation Sequencing tags to find the workflow card.

2. Select version 1.0.0 from the dropdown box in the top right corner. WHen ready to begin analysis, click “Run Workflow”.

3. This workflow currently supports four analysis functions: Expression Detection, Recalculate Statistics, Compare Alignments, and Human Cancer. Let’s look at the Recalculate Statistics options, for repeating statistical analysis performed in previous workflow runs. Select this function from the dropdown box.

4. Select a reference genome and annotation version for the workflow run.

5. Name the workflow run, then take a minute to review workflow settings and parameters. When you’re satisfied, click “Run Workflow” at the bottom-left corner.

Results Walkthrough

1. To view results for your Expression Analysis in RNASeq workflow, first find your workflow run from the Activity tab of the platform. Select your workflow run for more information.

2. After selecting your workflow run, you may click Open Analysis to view an interactive summary of the RNASeq analysis. You may also navigate the the Files tab and view and download analysis outputs in the output folder. These folders are also available in the File Explorer.

3. Navigate the RNASeq Analysis portal to view specific slices of your analysis.

Genomic Variant Analysis

Workflow Walkthrough

1. Navigate to the Genomic Variant Analysis workflow launcher on the Form Bio platform. You can locate the workflow using the search bar at the top right corner, or by using the Precision Medicine or Next-Generation Sequencing filters on the left-hand side.
2. Select version 1.2.0 from the dropdown versioning menu in the top right corner. On this page, you can find information about the workflow analysis. When ready to begin, click Run Workflow.

3. Select the type of input data to be analyzed. Currently, four types are supported - Germline, Ancient DNA, Somatic, and SARS-COV2. Select the steps of analysis to run, the type of compute to use (Parabricks, Sentieon, or open-source), and then upload your data files.


4. Select a reference genome to compare the input data to. You may also optionally upload a BED file detailing genomic regions of note.

5. Tune additional parameters related to your workflow run. These parameters may change depending on your input data.

6. Give your workflow run a unique name, and review the input data and run parameters. When ready to submit, click Run Workflow.

Results Walkthrough

1. To view the results of your Germline Variant Analysis workflow, first find and select your workflow run in the Activity tab.
2. Under the Files tab, you can view the final HTML file, which is nested in the output folder. You may view or download this file. This file can also be found in the File Explorer.

Human Haplotype

Workflow Walkthrough

1. Navigate to the Human Haplotype workflow launcher. You can use the search bar at the top right to navigate this workflow or you can use the Precision Medicine or Next-Generation Sequencing filters on the left-hand side.
2. Select version 0.0.2 from the dropdown versioning menu. You can view information about the use-cases and workflow analysis here. When ready to begin, click Run Workflow.

3. Provide a directory that contains your FastA files for analysis. Then, select the gene you wish to determine the haplotype for. Currently, HLA, RBG, and Codis are supported.

4. Give your workflow run a unique name, then review input data and parameters. When ready to submit, click Run Workflow.