Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics.

Journal: Human genomics
Published Date: Jul 14, 2023

Abstract

BACKGROUND: This pilot study aims to identify and functionally assess pharmacovariants in whole exome sequencing data. While detection of known variants has benefited from pharmacogenomic-dedicated bioinformatics tools before, in this paper we have tested novel deep computational analysis in addition to artificial intelligence as possible approaches for functional analysis of unknown markers within less studied drug-related genes.

Authors

  • Alireza Tafazoli
    Department of Analysis and Bioanalysis of Medicines, Faculty of Pharmacy With the Division of Laboratory Medicine, Medical University of Bialystok, 15-089, Białystok, Poland.
  • John Mikros
    Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Faeze Khaghani
    Department of Pharmaceutical Biotechnology, School of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran.
  • Maliheh Alimardani
    Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mahboobeh Rafigh
    Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mahboobeh Hemmati
    Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Stavroula Siamoglou
    Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Agnieszka Kitlas Golińska
    Institute of Computer Science, University of Bialystok, Białystok, Poland.
  • Karol A Kamiński
    Department of Population Medicine and Lifestyle Diseases Prevention, Medical University of Bialystok, Białystok, Poland.
  • Magdalena Niemira
    Clinical Research Centre, Medical University of Bialystok, Białystok, Poland.
  • Wojciech Miltyk
    Department of Analysis and Bioanalysis of Medicines, Faculty of Pharmacy With the Division of Laboratory Medicine, Medical University of Bialystok, 15-089, Białystok, Poland. Wojciech.miltyk@umb.edu.pl.
  • George P Patrinos
    Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.

Keywords

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