Nucleic Acids Research Advance Access originally published online on December 7, 2006
Nucleic Acids Research 2007 35(1):e6; doi:10.1093/nar/gkl742
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nucleic Acids Research, 2007, Vol. 35, No. 1 e6
© 2006 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Methods Online |
An efficient method for multi-locus molecular haplotyping
MRC Laboratory of Molecular Biology Hills Road, Cambridge CB2 2QH, UK
*To whom correspondence should be addressed. Tel: +44 1223 402190; Fax: +44 1223 412178; Email: phd{at}mrc-lmb.cam.ac.uk
Received July 31, 2006. Revised September 18, 2006. Accepted September 25, 2006.
Many methods exist for genotyping—revealing which alleles an individual carries at different genetic loci. A harder problem is haplotyping—determining which alleles lie on each of the two homologous chromosomes in a diploid individual. Conventional approaches to haplotyping require the use of several generations to reconstruct haplotypes within a pedigree, or use statistical methods to estimate the prevalence of different haplotypes in a population. Several molecular haplotyping methods have been proposed, but have been limited to small numbers of loci, usually over short distances. Here we demonstrate a method which allows rapid molecular haplotyping of many loci over long distances. The method requires no more genotypings than pedigree methods, but requires no family material. It relies on a procedure to identify and genotype single DNA molecules, and reconstruction of long haplotypes by a ‘tiling’ approach. We demonstrate this by resolving haplotypes in two regions of the human genome, harbouring 20 and 105 single-nucleotide polymorphisms, respectively. The method can be extended to reconstruct haplotypes of arbitrary complexity and length, and can make use of a variety of genotyping platforms. We also argue that this method is applicable in situations which are intractable to conventional approaches.
CiteULike 
Connotea 
Del.icio.us What's this?
Related articles in Nucl. Acids Res.:
- An efficient method for multi-locus molecular haplotyping
- Bernard A. Konfortov, Alan T. Bankier, and Paul H. Dear
Nucl. Acids Res. 2007 10.1093/nar/gkm185.[Extract] [FREE Full Text]
This article has been cited by other articles:
|
|
 |
|
  V. Bansal, A. L. Halpern, N. Axelrod, and V. Bafna An MCMC algorithm for haplotype assembly from whole-genome sequence data Genome Res., August 1, 2008; 18(8): 1336 - 1346. [Abstract] [Full Text] [PDF]
|
|