{A new statistical method for haplotype reconstruction from population data.}

Publication Type:Journal Article
Year of Publication:2001
Authors:M. Stephens, Smith, N. J., Donnelly, P.
Journal:American journal of human genetics
Volume:68
Pagination:978–89
ISSN:0002-9297
Keywords:Algorithms, Calibration, Computer Simulation, Gene Frequency, Gene Frequency: genetics, Haplotypes, Haplotypes: genetics, Humans, Research Design, Sensitivity and Specificity, Statistics as Topic
Abstract:

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.

URL:http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1275651&tool=pmcentrez&rendertype=abstract
DOI:10.1086/319501
Scratchpads developed and conceived by (alphabetical): Ed Baker, Katherine Bouton Alice Heaton Dimitris Koureas, Laurence Livermore, Dave Roberts, Simon Rycroft, Ben Scott, Vince Smith