期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 108, 期 1, 页码 12-17出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1016725108
关键词
haplotype; phased sequencing; single chromosome sequencing; SNP
资金
- National Institutes of Health [R01HG004634, R01HG003903]
- National Science Foundation [DMS0821823]
- Direct For Mathematical & Physical Scien
- Division Of Mathematical Sciences [0821823] Funding Source: National Science Foundation
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development of personalized medicine. Because of the difficulty in obtaining long-range phase information, current sequencing methods are unable to provide this information. Here, we introduce and show feasibility of a scalable approach capable of generating genomic sequences completely phased across the entire chromosome.
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