Copy-number polymorphisms: mining the tip of an iceberg

Buckley, P. G., Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Piotrowski, A., Diaz de Stahl, T. and Dumanski, J. P. 2005. Copy-number polymorphisms: mining the tip of an iceberg. Trends in Genetics 21 (6) , pp. 315-317.

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Abstract

Copy-number polymorphisms (CNPs) represent a greatly underestimated aspect of human genetic variation. Recently, two landmark studies reported genome-wide analyses of CNPs in normal individuals and represent the beginning of an understanding of this type of large-scale variation. Future array-CGH-based CNP analyses should include standard criteria on a common microarray platform. It is only when parallel analyses of CNPs and SNPs are performed in an integrated format that we will obtain a global picture of our genetic diversity.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0168-9525
Last Modified:	31 Oct 2022 10:04
URI:	https://orca.cardiff.ac.uk/id/eprint/83482

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