CNVDeep: deep association of copy number variants with neurocognitive disorders.

Journal: BMC bioinformatics
PMID: 39210319

Abstract

BACKGROUND: Copy number variants (CNVs) have become increasingly instrumental in understanding the etiology of all diseases and phenotypes, including Neurocognitive Disorders (NDs). Among the well-established regions associated with ND are small parts of chromosome 16 deletions (16p11.2) and chromosome 15 duplications (15q3). Various methods have been developed to identify associations between CNVs and diseases of interest. The majority of methods are based on statistical inference techniques. However, due to the multi-dimensional nature of the features of the CNVs, these methods are still immature. The other aspect is that regions discovered by different methods are large, while the causative regions may be much smaller.

Authors

  • Zahra Rahaie
    BCB Group, DML, Department of Computer Engineering, Sharif University of Technology, Tehran, Iran.
  • Hamid R Rabiee
    Department of Computer Engineering, Sharif University of Technology, Tehran, Iran.
  • Hamid Alinejad-Rokny
    Systems Biology and Health Data Analytics Lab, The Graduate School of Biomedical Engineering, UNSW Sydney, 2052 Sydney, Australia; School of Computer Science and Engineering, The University of New South Wales (UNSW Sydney), 2052 Sydney, Australia; Health Data Analytics Program Leader, AI-enabled Processes (AIP) Research Centre, Macquarie University, Sydney 2109, Australia.

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