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Completely phased genome sequencing through chromosome sorting

Completely phased genome sequencing through chromosome sorting

Proceedings of the National Academy of Sciences of the United States of America 108(1): 12-17

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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Accession: 052260881

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PMID: 21169219

DOI: 10.1073/pnas.1016725108

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