This proposed area is in some ways similar to the Uncloned, Mapped Autosomal Mendelian Diseases Initiative in its biomedical motivation, but has the advantage that it would approach the problem for a whole chromosome. Altogether, there are probably about 130 mapped, but uncloned, X-linked loci for human disease, based on a manual search of the OMIM database. Variation associated with disease would be found by resequencing each exon on the X of individuals with X-linked disorders; if a region could be identified, that region could be targeted first. As such, it would be a single-chromosome 'pilot' for resequencing all exons in the genome. The working group is in the process of identifying appropriate samples. This initiative would require resequencing up to 200,000 amplicons per phenotype.
Adam Felsenfeld, Ph.D.
Jane Peterson, Ph.D.
Associate Director, Division of Extramural Research
Last Reviewed: April 12, 2012