The wave of personal genomics is progressing rapidly. A string of four papers appeared recently (Porreca et al, 2007, Albert et al, 2007, Okou et al 2007, Hodges et al, 2007) reporting on microarrray-based technologies that enable the enrichment of selected genomic fragments in a single massively multiplexed reaction, thus greatly facilitating subsequent resequencing of pre-defined portions of the human genome (eg all coding exons). These technologies are expected to reduce dramatically the cost of targeted resequencing of individual genomes.
On the commercial front, deCODE and 23andMe have launched their personal genome service offering genome-wide SNPs profiling for a little less than $1,000 (NYT articles: Nicholas Wade, Amy Harmon, or Wired, ScienceRoll, Sandra, DNA and You).
The chips used by 23andMe are the “Illumina HumanHap550+ BeadChip, which reads more than 550,000 SNPs (single nucleotide polymorphisms) plus a 23andMe custom-designed set that analyzes more than 30,000 additional SNPs.” The profile provided by deCODEme includes “over one million variants across the genome.”
So what do you think?