A Blog Around The Clock

...that is, if you still think that a genome sequence tells all secrets about someone's success in science etc. ;-)

But the new paper actually uses Venter's personal genome to do some nifty stuff, as this is the first time a genome containing the sequences from BOTH sets of chromosomes of a single individual has been sequenced, with some interesting insights:

The Diploid Genome Sequence of an Individual Human:

We have generated an independently assembled diploid human genomic DNA sequence from both chromosomes of a single individual (J. Craig Venter). Our approach, based on whole-genome shotgun sequencing and using enhanced genome assembly strategies and software, generated an assembled genome over half of which is represented in large diploid segments (>200 kilobases), enabling study of the diploid genome. Comparison with previous reference human genome sequences, which were composites comprising multiple humans, revealed that the majority of genomic alterations are the well-studied class of variants based on single nucleotides (SNPs). However, the results also reveal that lesser-studied genomic variants, insertions and deletions, while comprising a minority (22%) of genomic variation events, actually account for almost 74% of variant nucleotides. Inclusion of insertion and deletion genetic variation into our estimates of interchromosomal difference reveals that only 99.5% similarity exists between the two chromosomal copies of an individual and that genetic variation between two individuals is as much as five times higher than previously estimated. The existence of a well-characterized diploid human genome sequence provides a starting point for future individual genome comparisons and enables the emerging era of individualized genomic information.

Also check out the synopsis and the article in The New York Times.

Oh, and while there, check out all the new articles that got published on PloS Biology today.