In the July 24 issue of Nature Biotechnology, Jun Wang from the Beijing Genomics Institute reports that large scale variations in the structure (e.g. deletion, duplication) of the human genome may contain more information about an individual than the collection of Single Nucleotide Polymorphisms (SNPs) usually reported in genomic biomarker studies such as Genome Wide Association Studies (GWAS). If confirmed, this report would force the field of genomics to rethink the way genomic data is assembled and reported. Indeed, even the most advanced DNA sequencing methods available today rely on chopping the DNA into small fragments that are easy to read but extremely difficult to reassemble into a full, structurally correct full genome.
Read also the piece in Wired magazine about this article: Your Genome Structure, Not Genetic Mutations, Makes You Different | Wired Science | Wired.com
Thierry
Sornasse for Integrated Biomarker Strategy
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