"Global variation in copy number in the human genome," by
Richard Redon and 42 others, Nature, 444(7118):
444-54, 23 November 2006.
Abstract: "Copy number variation (CNV) of DNA sequences is
functionally significant but has yet to be fully ascertained. We have
constructed a first-generation CNV map of the human genome through the
study of 270 individuals from four populations with ancestry in Europe,
Africa or Asia (the HapMap collection). DNA from these individuals was
screened for CNV using two complementary technologies: single-nucleotide
polymorphism (SNP) genotyping arrays, and clone-based comparative genomic
hybridization. A total of 1,447 copy number variable regions (CNVRs), which
can encompass overlapping or adjacent gains or losses, covering 360
megabases (12% of the genome) were identified in these populations. These
CNVRs contained hundreds of genes, disease loci, functional elements and
segmental duplications. Notably, the CNVRs encompassed more nucleotide
content per genome than SNPs, underscoring the importance of CNV in genetic
diversity and evolution. The data obtained delineate linkage disequilibrium
patterns for many CNVs, and reveal marked variation in copy number among
populations. We also demonstrate the utility of this resource for genetic
disease
studies."
This 2006 report from Nature was cited 83
times in current journal articles indexed by Thomson
Scientific during September-October 2007. Only one other biology paper
published in the last two years (excluding reviews) attracted a higher
number of citations during that two-month period. Prior to the most recent
bimonthly count, citations to the paper have accrued as follows:
July-August 2007: 23 citations
May-June 2007: 26
March-April 2007: 12
January-February 2007: 6
November-December 2006: 1
Total citations to date: 151
SOURCE:
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