Machine learning-driven polygenic risk scores for bipolar disorder, depression, and panic disorder

Sara Benoumhani (), Saima Jabeen () and Mariam M AlEissa ()

Edelweiss Applied Science and Technology, 2024, vol. 8, issue 6, 1758-1773

Abstract: Polygenic Risk Score (PRS) is a computational tech- nique that uses various genomic data to simultaneously analyze an individ-ual’s genetic risk for particular illnesses or traits. However, the traditional PRS computation has a few weaknesses, including its limited capacity to account for just a portion of trait variance, susceptibility to overfitting, and insufficient ability to discriminate among the larger population. Machine Learning (ML) methods offer a promising alternative to the traditional method by avoiding the problem of overfitting and improving accuracy. This study aims to develop an ML model for improved PRS calculation. We used the summary statistics for three mentals diseases, bipolar, depression, and panic disorder, from the Psychiatric Genomics Consortium (PGC) as a disease reference. We also obtained actual genotype data of individuals from OpenSNP, which includes both case and control samples. This data is used for predicting scores. The suggested approach, called Polygenic Risk Score Neural Network (PRSNN), calculates the PRS using weight vectors that estimate the relevance of each single nucleotide polymorphism (SNP) with a particular phenotype by deep learning model as an alternative to the traditional method. This study aims to develop a machine learning model, called PRSNN, for improved calculation of Polygenic Risk Scores (PRS). The PRSNN method outperforms the conventional method in identifying individuals at risk of mental disease. A novel deep-learning approach, named as PRSNN, is proposed for generating PRSs. The results demonstrate that it outperforms the traditional method of computing PRS for complex diseases. Further upgrades for this tool are required to overcome the current limitations, including lack of validation with external data from different ancestries, which may limit the applicability of the PRSNN method across diverse populations, and the small sample size, which may affect the results.

Keywords: Genome-wide association studies (GWAS); Machine Learning (ML); Polygenic risk score (PRS); Psychiatric genomics con-sortium (PGC). (search for similar items in EconPapers)
Date: 2024
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