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Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching

  October, 13 2006 10:57
your information resource in human molecular genetics
Comparisons between haplotypes from affected patients and the human reference genome are frequently used to identify candidates for disease-causing mutations, even though these alignments are expected to reveal a high level of background neutral polymorphism.

In a study published in American Journal of Human Genetics Vol. 79, pp.958-964), the authors describe a new strategy for detecting mutations that is based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome.


Maynard V. Olson
University of Washington Genome Center, Department of Medicine, University of Washington, Seattle

Abstract available online.

(C) American Journal of Human Genetics.

Message posted by: Trevor M. D'Souza

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