The next phase of genomics is to catalogue, characterize and comprehend the entire set of functional elements encoded in the human and other genomes. Compiling this genome 'parts list' will be an immense challenge.
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Most variation in the genome is shared between all populations, but certain alleles are more frequent in some populations than in others, largely as a result of history and geography. Use of genetic data to define racial groups, or of racial categories to classify biological traits, is prone to misinterpretation. To minimize such misinterpretation, the biological and sociocultural factors that interrelate genetics with constructs of race and ethnicity need to be better understood and communicated within the next few years.
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Technology development Many areas of critical importance to the realization of the genomics-based vision for biomedical research require new technological and methodological developments before pilots and then large-scale approaches can be attempted. Recognizing that technology development is an expensive and high-risk undertaking, the NHGRI is nevertheless committed to supporting and fostering technology development in many of these crucial areas, including the following.
DNA sequencing. There is still great opportunity to reduce the cost and increase the throughput of DNA sequencing, and to make rapid, cheap sequencing available more broadly. Radical reduction of sequencing costs would lead to very different approaches to biomedical research.
Genetic variation. Improved genotyping methods and better mathematical methods are necessary to make effective use of information about the structure of variation in the human genome for identifying the genetic contributions to human diseases and other complex traits.
http://www.genome.gov/11007524