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The future of CNVs: sequence based resolution and links to human disease 1

Part 1 of 2
Published on August 30, 2009 Updated on March 29, 2017   38 min

A selection of talks on Genetics & Epigenetics

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0:00
Hello, my name is Evan Eichler. I'm a Professor in the Department of Genome Sciences at the University of Washington. Title of my lecture today is The Future of Copy Number Variation: Sequence Based Resolution and Links to Human Disease.
0:15
For many years, it's been appreciated that there's a wide spectrum of human genetic variation, ranging on one hand from single base-pair changes such as point mutations, which can be detected at the level of sequence, the very large chromosomal variations that can be detected through a light microscope such as translocations, inversions, and fusions. What I want to focus on today is really an intermediate form of variation, large scale genomic variation typically defined as greater than 1 kilobase in length, which includes large-scale deletions, inversions, as well as segmental duplications.
0:50
Collectively, this type of variation is known as genome structural variation and it can be thought of as really being of two different flavors that which varies in terms of copy number within a genome, such as insertions and deletions where an individual may have one copy more or less of a given sequence with respect to another or balanced structural variation events, such as translocations and inversions in which there is no difference in copy number but there's a difference in the structure and organization of the sequence. Over the last few years, there's been a number of different approaches that have been used to actually characterize the pattern of normal structural variation. A normal structural variation refers to variation that's found in individuals who are not thought to suffer from obvious frank disease but in fact maybe risk factors for that disease. The various approaches can be divided into three different groups, those dependent upon microarrays, so these are DNA molecules that have been affixed to slides and measuring the relative hybridization intensity of a test and reference DNA sample to assess copy number. There are genomics-based approaches which often compare the sequence of one genome against the human reference sequence. And population genetic-based approaches which look for failures in genotyping or evidence of "Non-Mendelian transmission to detect potential sites of copy number variation." So I'll be focusing mainly in this talk on genomic-based approaches to detect copy number variation with exquisite sequence resolution.

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The future of CNVs: sequence based resolution and links to human disease 1

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