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.
Message posted by: Trevor M. D'Souza
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