The first DNA sequence of a diploid human genome from a single individual was published today in PLoS Biology. Unlike the human genome sequence released in 2001, which was a mixed sequence from several individuals, the publication of J. Craig Venter’s entire genome sequence has allowed a comparison of the paternal and maternal genetic contributions. Unexpectedly, the study showed that insertion and deletion mutations were surprisingly common, resulting in a genetic variation between two individuals that is five times higher than previously thought. This achievement brings personal genome sequencing, with all of it’s potential benefits and pitfalls, one step closer. Dr. Hsien-Hsien Lei’s blog has a nice summary of quotes that help put this historical moment into perspective.
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