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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.

Contact:

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

Abstract available online.

(C) American Journal of Human Genetics.


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