Link to the University of Pittsburgh Homepage
Link to the University Library System Homepage Link to the Contact Us Form

Gene-Disease Clinical Validity for Whole Genome Sequencing Standard Operating Procedure for Patients with Treatment Refractory Depression

Stynchula, Gracie (2023) Gene-Disease Clinical Validity for Whole Genome Sequencing Standard Operating Procedure for Patients with Treatment Refractory Depression. Master Essay, University of Pittsburgh.

[img] PDF
Restricted to University of Pittsburgh users only until 17 May 2025.

Download (755kB) | Request a Copy


The purpose of this essay was to create a standard operating procedure for genetic testing in patients with treatment refractory depression. Treatment refractory depression (TRD) is characterized by having severe depression that has no known intervention. Previously, it has been found that some symptoms that lead to patients being diagnosed with treatment refractory depression are caused by unknown metabolic abnormalities found through genetic testing, such as whole genome sequencing. However, testing potential causes of symptoms in TRD individuals is extremely difficult due to the rarity of the condition. Therefore, a standard operating procedure was created as a guideline for physicians to replicate whole genome sequencing in patients who have been diagnosed with TRD or present symptoms of TRD. The standard operating procedure is a step-by-step instruction explaining how to prepare and perform whole genome sequencing on TRD patients. The standard operating procedure includes the gene clinical validity chart which is a list of genes that are known to cause metabolic abnormalities. This list can be used by physicians to sort through and decipher which genes should be sequenced and which conditions would most relate to their patient.


Social Networking:
Share |


Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Stynchula, Graciegrs87@pitt.eduGRS870009-0005-4071-4344
ContributionContributors NameEmailPitt UsernameORCID
Thesis advisorPeters, Daviddgp6@pitt.edudgp6UNSPECIFIED
Thesis advisorFinegold, Daviddnf@pitt.edudnfUNSPECIFIED
Date: 17 May 2023
Date Type: Completion
Submission Date: 21 April 2023
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 28
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Uncontrolled Keywords: N/A
Date Deposited: 17 May 2023 15:34
Last Modified: 17 May 2023 15:34


Monthly Views for the past 3 years

Plum Analytics

Actions (login required)

View Item View Item