Introduction
Copy number variations (CNVs) have more impacts on DNA sequence within the human genome than single nucleotide polymorphisms (SNPs). CNVs have gained a lot of importance which are widely accepted even if there are no fully evaluated optimal methods of identifying the disparities between the two. CNV has functional attributes in genome wide associations studies (GWAS). There are comprehensive reports that have been made concerning this matter in relation to the CNVs.
It has been studied and found that DNA collection using high density of about 500K Early Access SNP genotyping arrays resulted in more than 900 CNVs that range from 1kb to 4kb in size. It is important to note that CNVs identification does not involve incorporate DNA probes which are centralized in the polymorphic nucleotides. This is the significant technological doorstep in animal and human history i.e. the ability to manipulate the genes that are inherited by the younger generation.
Summary of the article
According to studies conducted, there is generally accepted principle that two personalities are about 99.9% identical at the nucleotide level after the human genome sequence completion. The genetic diversity among humans is affected by the nucleotide polymorphism which is present in the genome which makes two individual identical. It is postulated that DNA copy number changes among diverse individuals with different genome sequence within the context of specific loci within the genome.
These changes can effectively changes the spectrum of the specific genome loci i.e. it can span spectrum of an extra copy of chromosome present in the Down’s syndrome to reaching the sub-chromosomal deletions that are concern with genetic traits which are depicted by individuals such as color blindness. There has been paradigm of genetic variation as from time immemorial as revised in the 2007 where genome-wide copy number variants which arise among phenotypically normal individuals.
It has been concluded that non-polymorphic probes are the basis for CNV identification after the research was conducted on characterization of pair DNA where about 200 CNVs were used to carry out the process. It has also been concluded that non-polymorphic probes aids in defining the CNV boundary delineation which tempers with the genomic organization. A lot of studies have also described wide spread of CNVs in the genome which is globally distributed.
New studies have analyzed that as the CNVs continues to catalogue, there are changes in the functions of the human genome such as metabolism in the body especially products such as drugs which are ingested into the human body. Other functions such as gene expression, developmental disorders and human disease susceptibility undergo changes in their normal cellular processes. In these studies, CNV detection has been done by use of non-polymorphic oligonucleotide which employs highly designed density array predicated. Genome-wide CNV identification coverage has been improved greatly through the approach of uncouples copy number detection. Additionally, a novel algorithm was established and authenticated purposely to extract CNV regions and boundaries.
In conclusion, human genetics have been applied in preventing diseases and to alleviate suffering. Genome identification has been incorporated into genetic engineering in changing of genes in living cells. For example, if the lung of human being is affected due to the defective genes, these genes can be altered and the disease can be cured. The latest research latest has shown that human genes can be transformed into the virus-like organisms that are introduced into a blood stream which are then transferred to the lungs..
References List
Sladek, R (2007). A genome-wide CNV Identification. 450-460.