4.8 Article

Completely phased genome sequencing through chromosome sorting

出版社

NATL ACAD SCIENCES
DOI: 10.1073/pnas.1016725108

关键词

haplotype; phased sequencing; single chromosome sequencing; SNP

资金

  1. National Institutes of Health [R01HG004634, R01HG003903]
  2. National Science Foundation [DMS0821823]
  3. Direct For Mathematical & Physical Scien
  4. Division Of Mathematical Sciences [0821823] Funding Source: National Science Foundation

向作者/读者索取更多资源

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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