A new statistical method for haplotype reconstruction from population data

Am J Hum Genet. 2001 Apr;68(4):978-89. doi: 10.1086/319501. Epub 2001 Mar 9.


Current routine genotyping methods typically do not provide haplotype information, which is essential for many analyses of fine-scale molecular-genetics data. Haplotypes can be obtained, at considerable cost, experimentally or (partially) through genotyping of additional family members. Alternatively, a statistical method can be used to infer phase and to reconstruct haplotypes. We present a new statistical method, applicable to genotype data at linked loci from a population sample, that improves substantially on current algorithms; often, error rates are reduced by > 50%, relative to its nearest competitor. Furthermore, our algorithm performs well in absolute terms, suggesting that reconstructing haplotypes experimentally or by genotyping additional family members may be an inefficient use of resources.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Calibration
  • Computer Simulation
  • Gene Frequency / genetics
  • Haplotypes / genetics*
  • Humans
  • Research Design
  • Sensitivity and Specificity
  • Statistics as Topic