Graig Venter, an American geneticist, has published his six-billion-letter genome, his own DNA map. Details on what makes Mr. Venter unique are available for everyone to see – his genome was uploaded on to a public gene database. Venter’s genome contains most of the information there is to know about him – his health, potential health risks, personality, type of hair, most likely height, origins, and much more. This is the first complete individual genome published. A more accurate biography of an individual does not exist.

Scientists around the world have applauded Venter for his unselfish move.

The race began six years ago – initiated by Mr. Venter. It was a race to see who would be the first to publish his/her personal genome.

To date, researchers have been fairly limited in what they could do – using the mosaic of various contributors which was published in 2001. Venter’s contribution provides a fantastic reference genome which will help experts compare and understand genetic variations between different people. Canadian scientist, Dr. Scherer, who was involved in this project, told The Ottawa Citizen that what we have now is a bit like being able to compare different cars when going out to buy one – the situation before was that one could only look at one car. Dr. Scherer added that as other prominent scientists are keen to do the same, we will soon have a large store of human genome references.

It will not be many years, scientists believe, before any of us will be able to have our own genome sequenced for as little as a few thousand dollars – a far cry from the estimated $10 million it cost to map out Mr. Venter’s.

HuRef (Mr. Venter’s genome) has already taught us that there are over four times more differences between individuals’ DNA than previous expert estimates. We once thought we were all 99.9% the same as one another – HuRef indicated that the number is more like 95.5%. This 4.5% difference equals millions and millions of differences between one person and the next.

Venter’s genome apparently reveals that he has inherited only a small part of his father’s and ancestors’ susceptibility to heart disease (which exist in some gene variants) – his father died when he was 59 of a heart attack. So for him, the risk of experiencing cardiac arrest may be lower than his Dad’s was.

Venter’s genome sequence was produced from about 32 million random DNA fragments. They were sequenced by Sanger dideozy technology and put together into 4,428 scaffolds, comprising 2,810 million bases (Mb) of contiguous sequence with approximately 7.5-fold coverage for any given region.

The scientists developed a modified version of the Celera assembler to make identification and comparison of alternate alleles within Venter’s individual diploid genome possible.

When the scientists compared Venter’s genome with the National Center for Biotechnology Information human reference assembly they found over 4.1 DNA variants, encompassing 12.3 Mb.

These variants, 1,288,319 of which were novel, included:

— 3,213,401 single nucleotide polymorphisms (SNPs)
— 53,823 block substitutions (2 – 206 bp)
— 292,102 heterozygous insertion/deletion events (indels)(1 – 571 bp)
— 559,473 homozygous indels (1 – 82,711 bp)
— 90 inversions
— also numerous segmental duplications and copy number variation regions.

“The Diploid Genome Sequence of an Individual Human”
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, et al.
PLoS Biology
Vol. 5, No. 10, e254 doi:10.1371/journal.pbio.0050254
Click here to read the research article

Written by: Christian Nordqvist