| 摘要 |
The present invention is directed to methods for providing a definitive haplotype of a subject. The haplotype information generated by the methods described herein is more accurate than that provided by prior art methods that only give an inferred haplotype. Accordingly, in one aspect the present invention provides a method for determining a definitive haplotype of a subject the method including the steps of providing a substantially isolated haploid element from the subject, and obtaining nucleotide sequence information from the haploid element. Applicants propose that the use of a substantially isolated haploid element eliminates the problem of incorrect or misleading inferences concerning the phase of two or more loci within a haplotype, and allows for revelation of two or more participatory genes within a haplotype, uncomplicated by differences in modes of inheritance. The guarantee of strictly cis-phase associations is provided in the present methods by the use of a substantially isolated haploid element as starting material for sequence analysis.
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