The first individual human genome has been sequenced, which was obtained from Dr Craig Venter who was formerly from Celera, who was working on sequencing the first human genome before the US government joined in, and effectively making the genome public domain.

The genome reveal more variations that initially thought of, that, it is more than just Single Nucleotide Polymorphism (SNPs) that determine differences between humans. Actually, this should have been quite commonsensical because everyone loses some bits of genes here and there, and by pooling different individuals for the first sequenced human genome, there is bound to be gaps and glitches everywhere.

In fact, should they decide to sequence another individual, they may discovered that places once occupied by “junk DNA” may actually be valid loci – places that are occupied by genes. Hence, in fact, humans are not really 99.9% identical!

This result preliminarily shows that we have quite a long way to go in terms of DNA research, which, fortunately or unfortunately, depending on how you see it, is what I am doing. This also means that personalized medicine may still have quite a fair bit to go, at least at the holistic level. There may be unknown interactions that linger from what is originally thought as junk DNA, and it is possible that such junk DNA may be reactivated. We’ll never know for sure.

Here’s the article in full from straitstimes.com. Standard disclaimer and rights apply.

PARIS – THE first individual genome ever sequenced – a complete DNA blueprint of celebrity scientist Craig Venter – has revealed genetic variation among humans far richer than previously imagined.
Published on Tuesday in the online open-access journal PLoS Biology, the 2.8 billion contiguous bits of genetic code will also hasten advances in preventative medicine, said Dr Venter, who is both an author and the object of the study.

Within five years, faster and cheaper sequencing techniques could produce complete genomes for 10,000 people, laying the foundation for ‘an era of individualised genomics’, he predicted.

‘Once we have those, we will basically be able to sort out every fundamental question about nature versus nurture, what’s genetic and what’s environment,’ he said by phone.

The findings overturn what had in a few short years become genetic gospel: that all human beings are, genetically speaking, 99.9 identical.

Dr Venter himself trumpeted this idea in 2000 when his biotech firm Celera, which he left in 2003, and a team of US-government scientists simultaneously unveiled – after a bruising race to the finish line – the fist complete human genome.

Both of these earlier efforts were flawed and greatly underestimated genetic diversity, he and his colleagues now say, because the whole had been assembled from a hodgepodge of DNA taken from several individuals.

The variations revealed in the new genome, dubbed, ‘HuRef’, go far beyond previously identified single nucleotide polymorphisms (SNPs), once thought to be the key to differences in human traits and disease susceptibility.

SNPs are DNA sequence variations that occur when a single nucleotide – the basic building blocks, composed in pairs, of DNA – in the genome sequence is altered.

Also important, however, are previously overlooked variations in stretches of genetic code that were once dismissed as useless ‘junk DNA’.

‘This dispels the notion we had in 2000 and 2001 that we all have exactly the same genes in the human population,’ said Dr Venter. ‘It would have been very disturbing if the range of characteristics that we see all came down to a few simple SNP variations.’

The new data shows that in an individual genome upwards of 44 per cent of genes are variable in sequence. — AFP



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