Direct determination of molecular haplotypes by chromosome microdissection

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Direct observation of haplotypes is still technically challenging. Here we report a method for the determination of haplotypes through chromosome microdissection. We determined human long-range chromosomal haplotypes with more than 98.85% accuracy at 24,245 genome-wide heterozygous single-nucleotide polymorphism (SNP) loci.

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Figure 1: The principle and results for chromosome 5 of the 7DDNA haplotyping method.


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This work was supported by US National Institutes of Health grants (HL003676, RR014758, RR003034, NS45012 and HG004436), an American Heart Association grant (09GRNT2300003) and in part by the Medical Research Service of the Department of Veterans Affairs. K.Z. was supported by National Institutes of Health (GM074913). We thank S.J. Kittner, R.A. Kittles, G. Newman and G.H. Gibbons for reading and discussing the manuscript, and the people who donated blood samples and members of the International HapMap project.

Author information

L.M. performed experiments and data analysis. Y.X. and Q.W. assisted with microdissection experiments. H.H. assisted with cytogenetic experiments. L.M. and W.R. performed computational data analysis. Y.F. contributed to data analysis and manuscript preparation. K.Z. conducted statistical analysis. Q.S. designed the experiments, performed data analysis and wrote the manuscript.

Correspondence to Qing Song.

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The authors declare no competing financial interests.

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Supplementary Text and Figures

Supplementary Figures 1–4, Supplementary Tables 1, 3–7 and Supplementary Notes 1–2 (PDF 227 kb)

Supplementary Table 2

The 7DDNA haplotype report. (XLS 5608 kb)

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