Completely phased genome sequencing through chromosome sorting.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 21169219.
- Also identified by DOI 10.1073/pnas.1016725108 and PMC identifier 3017199.
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Abstract
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.
Medical subject headings
- Chromosomes, Human
- Genome, Human
- Haplotypes
- Sequence Analysis, DNA