Sunday, September 03, 2006

More on structural variation in the genome

Unfortunately, I don't have access to the full text, but it looks like this paper is another good review of "various structural rearrangements .... with their influence on human phenotypic variation."

Structural Variation of the Human Genome

Andrew J. Sharp, ­ Ze Cheng, and Evan E. Eichler

There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.

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