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