collins_genomicsNature2003

Dna sequencing there is still great opportunity to

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Unformatted text preview: medical 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. The genome ‘parts list’. Beyond coding sequences and transcriptional units, new computational and experimental approaches are needed to allow the comp...
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