Scientists have identified hot spots in human genome, about 15 million places using improved sequencing technologies. These findings can help in establishment of genetic cause for diseases and targeted therapy of heart disorders and tumors by detecting mutations in genome.

Sequencing of first human genome took 10 years of research and about $3 billion. The DNA chain is 3.1 billion bases long and composed of 20000 to 25000 bases.

The 1000-genomes project currently underway will decode 2500 sequences by 2012 at an estimated cost of $120 billion. These results are derived from a pilot experiment of 800 people.

An extremely significant and surprising finding was that information that contributes to observe variation among people, also called hot spots, constitutes only 1% of human genetic blueprint. Changes in the genetic code happen in these regions resulting in differences in eye color, height and disease propensity. The remaining 99% of genome is consistent and identical among all people of world. What is promising is 95% of hot spots are now known and rest will be completed within short time.

Scientists conducting this research attribute its rapid success within limited time to new and powerful DNA sequencing machines. Sequencing procedures that previously take months or years to complete is finished within hours. But this method is expensive compared to older techniques. Richard Durbin from Wellcome Trust Sanger Institute in England says -"In the last 10 years, DNA sequencing technology has advanced dramatically so that it becomes feasible to systematically sequence many people to find genetic variants and build a catalog which we can use as a basis for investigations into disease genetics and which variants may be functional."

This study find that every human being has 250-300 variations that cease function of genes and 50-100 individual places to inherit disease. Also female progeny possess a significant number of unique variations not inherited from either parent. But every gene occurs in 2 copies in nature, which prevents any problems caused by the variation.

In another related finding, scientists have found means of identifying multiple copies of genes that contribute to an increase in tendency of disease development. Genes associated with brain development accumulate in genome and could be responsible for evolution of humans from primates. Both these results were published on same day, October 27, 2010, in journals Nature and Science respectively.

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