Direct determination of molecular haplotypes by chromosome microdissection

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.

[1]  M. Boehnke,et al.  Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies , 2001, Nature Genetics.

[2]  David E. Housman,et al.  Digital genotyping and haplotyping with polymerase colonies , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[3]  Zhaohui S. Qin,et al.  A comparison of phasing algorithms for trios and unrelated individuals. , 2006, American journal of human genetics.

[4]  M. Boehnke,et al.  Loss of information due to ambiguous haplotyping of SNPs , 1999, Nature Genetics.

[5]  J. Ragoussis Genotyping technologies for genetic research. , 2009, Annual review of genomics and human genetics.

[6]  Peter Donnelly,et al.  A comparison of bayesian methods for haplotype reconstruction from population genotype data. , 2003, American journal of human genetics.

[7]  Kui Zhang,et al.  Haplotype-association analysis. , 2008, Advances in genetics.

[8]  Toshihiro Tanaka The International HapMap Project , 2003, Nature.

[9]  James R. Eshleman,et al.  Conversion of diploidy to haploidy , 2000, Nature.

[10]  P. Kwok,et al.  Direct determination of haplotypes from single DNA molecules , 2009, Nature Methods.

[11]  Mark A. Levenstien,et al.  Are Molecular Haplotypes Worth the Time and Expense? A Cost-Effective Method for Applying Molecular Haplotypes , 2006, PLoS genetics.

[12]  A. Levan,et al.  THE CHROMOSOME NUMBER OF MAN , 2010 .

[13]  J. Jurka Repbase update: a database and an electronic journal of repetitive elements. , 2000, Trends in genetics : TIG.

[14]  Jay Shendure,et al.  Long-range polony haplotyping of individual human chromosome molecules , 2006, Nature Genetics.