Journal
NATURE REVIEWS GENETICS
Volume 12, Issue 3, Pages 215-223Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2950
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Funding
- Price Foundation and Scripps Genomic Medicine
- [U19 AG023122-01]
- [R01 MH078151-01A1]
- [N01 MH22005]
- [U01 DA024417-01]
- [P50 MH081755-01]
- [UL1 RR025774]
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Contemporary sequencing studies often ignore the diploid nature of the human genome because they do not routinely separate or 'phase' maternally and paternally derived sequence information. However, many findings - both from recent studies and in the more established medical genetics literature - indicate that relationships between human DNA sequence and phenotype, including disease, can be more fully understood with phase information. Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential.
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