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Dr. James R. Lupski

8 November 2009 No Comment

Department of Molecular and Human Genetics - Baylor College of Medicine

What I can say is that structural changes, and in particular CNVs, may indeed be responsible for a lot of sporadic disease given the fact that locus specific mutation rates for CNV mutations can be 100 to 10,000 times more frequent than locus specific mutation rates for single base pair changes or SNPs (single nucleotide polymorphisms). It may also be that the nervous system in particular is more susceptible to copy number changes than other biochemical pathways, or networks of interacting proteins in different physiological systems, within the body.

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