[tt] Craig Venter's genome published in PLoS Bio

[Christian Weisgerber]

[Craig Venter's genome has been published in PLoS Biology.]

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

http://biology.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pbio.0050254

Author Summary

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.

-- 
Christian "naddy" Weisgerber                          naddy at mips.inka.de