Table 1.
Genetic Progress through Technology.*
| Scientific Advance | Technological Platform | Explanation | Reference |
|---|---|---|---|
| Sequencing of the human genome | Whole-genome expression arrays | Allows the expression of all genes to be determined by hybridization | Lander et al.,12 Venter et al.,13 Su et al.14 |
| Human HapMap | |||
| SNP technology | Demonstrates that individual SNPs predict adjacent SNPs and therefore suggests that genotyping of <500,000 SNPs may allow a nearly complete survey of all common genetic variability | The International HapMap Consortium2 | |
| Genome genotyping | Whole-genome SNP genotyping arrays | Allows whole-genome associations to be performed for common diseases, the commercial consequence of the HapMap | Sladek et al.15 |
| High-throughput analysis | High-throughput sequencing techniques | Allows DNA sequencing that is faster and cheaper than conventional sequencing | Margulies et al.16 |
| Allows the expression of all RNA species, including different splice forms to be assessed in any tissue | Brenner et al.17 | ||
| Allows individual full-coding genome sequencing, together with whole-genome arrays that hybridize and bind to all exons | Olson18 | ||
| Sequencing of the individual genome | Opens the way for personal genome sequencing | Wheeler et al.19 | |
| 1000 Genomes Project | Allows the identification of comparatively rare polymorphic changes by placing the full genome sequences of 1000 anonymous subjects into the public domain | 1000 Genomes Project20 | |
| Genotype-Tissue Expression (GTEx) project | Allows the creation of haplotypic gene-expression databases for many human tissues | NIH Roadmap for Medical Research21 |
*
NIH denotes National Institutes of Health, and SNP single-nucleotide polymorphism.