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Structural variation in the human genome

Hurles, M (Sanger)
Tuesday 01 April 2008, 09:00-10:00

Seminar Room 1, Newton Institute


Over the past three years it has become rapidly appreciated that the human genome varies in its structure as well as its sequence, by virtue of a panoply of different chromosomal rearrangements, some that alter the number of copies of DNA segments, and others that alter orientation but not copy number. Evidence is growing from diverse sources that this source of genomic variation has an appreciable functional impact, and yet we remain far from a complete catalogue of this form of variation let alone its biological consequences. In my talk I will summarise the progress to date and highlight the appreciable statistical challenges that remain, with particular reference to the approaches being adopted in my group towards assaying copy number variation and assessing its impact on complex traits through genetic association studies.




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