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First individual genome sequence published
Date:9/3/2007

vered 7.5 times, ensuring that each set of contributing chromosomes was covered over 3.2 times for greater than 96% coverage of the two parental genomes. The team at JCVI compared and contrasted the new HuRef diploid genome sequence to earlier versions of published human genomes and found that the HuRef version improved upon both these early versions by providing more and correctly oriented base pairs.

Since the HuRef genome is diploid, each of the parental chromosomes could be directly compared to each other. One of the most surprising and important findings from this research was the high degree of genetic variation that was found between two chromosomes within a single individual.

Each time we peer into the human genome, we uncover more valuable insight into our intricate biology, said Dr. Venter. With this publication, we have shown that human-to-human variation is more than seven-fold greater than earlier estimates, proving that we are in fact very unique individuals at the genetic level. He added, It is clear, however, that we are still at the earliest stages of discovery about ourselves, and only with continued sequencing of more individual genomes will we be able to garner a full understanding of how our genes influence our lives.

Within the human genome, there are different kinds of DNA variants. The most studied type is single nucleotide polymorphisms, or SNPs. These have long been thought to be the most prevalent and perhaps the most important type of variant implicated in human traits and disease susceptibility. However, in this analysis of Dr. Venters genome, the team found a surprising number of other important variants. A total of 4.1 million variants covering 12.3 million base pairs of DNA were uncovered with more than 1.2 million new variants discovered.

Of the 4.1 million variations between chromosome sets, 3.2 million were SNPs, while nearly one million were other kinds of variants, such as insertion/deletio
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Contact: Natalie Bouaravong
press@plos.org
415-568-3445
Public Library of Science
Source:Eurekalert

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