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Another source of genetic variability mapped

Researchers chart out insertions and deletions in the genome.

The way that some pieces of DNA are chopped and changed within individual genomes has been mapped for the first time. The catalogue of insertions and deletions in the human genome could eventually help scientists to find treatments for diseases, tailored to the genetic makeup of individuals.

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Researchers chart out insertions and deletions in the genome:
INDELs mapped by Devine's team can be coupled with SNP information to increase the range of genome-wide analysis. Majority of SNPs are not present in coding region but on the other hand about a third of the INDELs mapped so far have been found to lie within genes rather than in the DNA that doesn't code for proteins. Another important aspect that needs to be evaluated is the evolutionary rates of these INDELS. This partnership can be fruitful in designing better association studies wherein complex traits can be dissected for probably hundreds of susceptibility loci that increase the risk for each common disease and influence disease related quantitative traits.

Charting out INDELs of human genome will be great beneficial to drug discovery and development. Although much non-coding DNA will be involved, it wont be the same sort problem of SNPs. Non-coding DNA frequently works in collaboration with proteins because it is becoming increasingly clear that changes in gene expression – mediated primarily by changes in noncoding DNA – have a tremendous impact on organism phenotype, such as introns can increase expressing specific protein variants for different tissues. Further other aspects are needed to be evaluated, for instance, the function of INDELs might be masked by repeat sequences. In addition, gene expression on one of the female X chromosomes is silenced early in development by the process of X-chromosome inactivation (XCI), and this chromosome remains inactive in somatic tissues thereafter, so INDELs on X chromosome (including Y chromosome) may produce surprise results.

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