title: Copy-number polymorphisms: mining the tip of an iceberg.
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.
authors.affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Buckley
authors.forename: Kiran K
authors.initials: KK
authors.lastname: Mantripragada
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Piotrowski
authors.forename: Teresita
authors.initials: T
authors.lastname: Diaz de Ståhl
authors.forename: Jan P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D018628:Gene Dosage; D015894:Genome, Human; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide