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It comes as no surprise to anyone that our genomes are complicated. In the sea of differences that generate a given genome lie allelic changes affecting single nucleotides, as well as small and large blocks of A's, T's, C's, and G's. The overall effect of this variation, however,...

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Veröffentlicht in:American journal of human genetics 2014-11, Vol.95 (5), p.473-474
Hauptverfasser: Ratzel, Sarah, Cullinan, Sara B.
Format: Artikel
Sprache:eng
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Zusammenfassung:It comes as no surprise to anyone that our genomes are complicated. In the sea of differences that generate a given genome lie allelic changes affecting single nucleotides, as well as small and large blocks of A's, T's, C's, and G's. The overall effect of this variation, however, remains largely enigmatic. Recent efforts have improved the ability to detect copy-number variants (CNVs) from frequently used genotyping platforms, as well as from sequencing data, suggesting that the contribution of structural variation to complex traits might be ripe for in-depth exploration.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2014.10.009