2017
DOI: 10.6001/actamedica.v24i1.3457
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The most common technologies and tools for functional genome analysis

Abstract: Since the sequence of the human genome is complete, the main issue is how to understand the information written in the DNA se quence. Despite numerous genomewide 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 con ditions, functional analysis is vitally important for human health.For many years there have been a variety of technologies and t… Show more

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Cited by 57 publications
(35 citation statements)
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References 64 publications
(67 reference statements)
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“…Recently, the omics suffix was also applied to emerging non-molecular fields: 'radiomics', the high-throughput mining of quantitative image features from clinically used medical imaging [6] and 'metagenomics', the assessment of the microbial communities inhabitant of the human body. More details about the characteristics of these other omics areas and methods are available elsewhere [7].…”
Section: Main Omics Methodologiesmentioning
confidence: 99%
“…Recently, the omics suffix was also applied to emerging non-molecular fields: 'radiomics', the high-throughput mining of quantitative image features from clinically used medical imaging [6] and 'metagenomics', the assessment of the microbial communities inhabitant of the human body. More details about the characteristics of these other omics areas and methods are available elsewhere [7].…”
Section: Main Omics Methodologiesmentioning
confidence: 99%
“…The human genome project initiated in 1990 annotated the DNA sequence of the complete euchromatic human genome. Since then, the sequencing technologies [Sanger and next-generation sequencing (NGS)] have remained the hottest topic in the field of genomics research ( Gasperskaja and Kućinskas, 2017 ). In the modern DNA sequencing era, with the ongoing technological advancement in the field of genomics, the sequencing technologies are revolutionizing the genome research especially with the high-throughput NGS (HT-NGS).…”
Section: An Analytical View Of Modern Methodologies That Can Be Used mentioning
confidence: 99%
“…However level of physicians knowledge remains a barrier for delivering benefits of genomic medicine (9). Diagnostic methods such as Array Comparative Genomic Hybridization (array CGH) and Fluorescence in situ hybridization (FISH) are being used increasingly in today's clinical genetics practice 10 . Array CGH is a method of high resolution genome wide screening of segmental Copy Number Variations (CNV) used to detect unbalanced chromosomal abnormalities ( 11 ) .…”
Section: Introductionmentioning
confidence: 99%