Exploring Polygenic Risk Score Calculation Pipelines Using Linux Command Line Interface

Abstract

Polygenic risk scores (PRS) has become one of the most marketable research topics as medicine focused more into personalized healthcare. By using PRS, an individual's gene can guide both the patient and the healthcare professionals in making decisions regarding themself. As such, many different workflows and tools have been developed over the years in an effort to make PRS calculation easier, while still maintaining a good, proper result. Such tools include plink2, prspipe, and PRSice-2. Although those tools have their own documentation, an adaptation to use them with real life data has its own challenges. Many of which were due to data limitation, which eliminates the possibility of it being used in this specific case such as in the case of prspipe and PRSice-2. Meanwhile, plink2 as the most promising tool was also limited due to the small amount of sample which causes a skewed result. Therefore, this report can only be used as a proof of exploration towards the various workflows with limited conclusion.