2-AIN-505, 2-AIN-251: Seminár z bioinformatiky (1) a (3)
Zima 2014
Abstrakt

Can Alkan, Bradley P. Coe, Evan E. Eichler. Genome structural variation discovery and genotyping. Nature reviews. Genetics, 12(5):363-366. 2011.

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Abstract:

Comparisons of human genomes show that more base pairs are altered as a result of
structural variation - including copy number variation - than as a result of
point mutations. Here we review advances and challenges in the discovery and
genotyping of structural variation. The recent application of massively parallel 
sequencing methods has complemented microarray-based methods and has led to an
exponential increase in the discovery of smaller structural-variation events.
Some global discovery biases remain, but the integration of experimental and
computational approaches is proving fruitful for accurate characterization of the
copy, content and structure of variable regions. We argue that the long-term goal
should be routine, cost-effective and high quality de novo assembly of human
genomes to comprehensively assess all classes of structural variation.