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Current Bioinformatics

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ISSN (Print): 1574-8936
ISSN (Online): 2212-392X

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Mini-Review Article

Possibilities and Limitations of CNV Interpretation Software and Algorithms in Homo Sapiens

Author(s): Maria A. Zelenova and Ivan Y. Iourov*

Volume 17, Issue 10, 2022

Published on: 06 October, 2022

Page: [883 - 887] Pages: 5

DOI: 10.2174/1574893617666220907121155

Price: $65

Abstract

Background: Technical advances and cost reduction have allowed for the worldwide popularity of array platforms. Otherwise called “molecular karyotyping”, it yields a large amount of CNV data, which is useless without interpretation.

Objective: This study aims to review existing CNV interpretation software and algorithms to reveal their possibilities and limitations.

Results: Open and user-friendly CNV interpretation software is limited to several options, which mostly do not allow for cross-interpretation. Many algorithms are generally based on the Database of Genomic Variants, CNV size, inheritance data, and disease databases, which currently seem insufficient.

Conclusion: The analysis of CNV interpretation software and algorithms resulted in a conclusion that it is necessary to expand the existing algorithms of CNV interpretation and at least include pathway and expression data. A user-friendly freely available CNV interpretation software, based on the expanded algorithms, is yet to be created.

Keywords: SNP array, CNV interpretation, bioinformatics, genetics, brain diseases, molecular karyotyping.

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Graphical Abstract

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