The most common technologies and tools for functional genome analysis

Evelina Gasperskaja, Vaidutis Kučinskas

Abstract


Since the  sequence of the  human genome is complete, the  main issue is how to understand the information written in the DNA sequence. Despite numerous genome-wide studies that have already been performed, the challenge to determine the function of genes, gene products, and also their interaction is still open. As changes in the human genome are highly likely to cause pathological conditions, functional analysis is vitally important for human health.
For many years there have been a  variety of technologies and tools used in functional genome analysis. However, only in the  past decade there has been rapid revolutionizing progress and improvement in high-throughput methods, which are ranging from traditional real-time polymerase chain reaction to more complex systems, such as next-generation sequencing or mass spectrometry. Furthermore, not only laboratory investigation, but also accurate bioinformatic analysis is required for reliable scientific results. These methods give an opportunity for accurate and comprehensive functional analysis that involves various fields of studies: genomics, epigenomics, proteomics, and interactomics. This is essential for filling the  gaps in the  knowledge about dynamic biological processes at both cellular and organismal level. However, each method has both advantages and limitations that should be taken into account before choosing the right method for particular research in order to ensure successful study. For this reason, the present review paper aims to describe the most frequent and widely-used methods for the comprehensive functional analysis.

Keywords


functional analysis; technologies; variants; genomics; transcriptomics; gene expression

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DOI: https://doi.org/10.6001/actamedica.v24i1.3457

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ISSN 1392-0138 (Print)
ISSN 2029-4174 (Online)