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Mendeley readers
Attention Score in Context
| Title |
Copy number variation at 1q21.1 associated with neuroblastoma
|
|---|---|
| Published in |
Nature, June 2009
|
| DOI | 10.1038/nature08035 |
| Pubmed ID | |
| Authors |
Sharon J. Diskin, Cuiping Hou, Joseph T. Glessner, Edward F. Attiyeh, Marci Laudenslager, Kristopher Bosse, Kristina Cole, Yaël P. Mossé, Andrew Wood, Jill E. Lynch, Katlyn Pecor, Maura Diamond, Cynthia Winter, Kai Wang, Cecilia Kim, Elizabeth A. Geiger, Patrick W. McGrady, Alexandra I. F. Blakemore, Wendy B. London, Tamim H. Shaikh, Jonathan Bradfield, Struan F. A. Grant, Hongzhe Li, Marcella Devoto, Eric R. Rappaport, Hakon Hakonarson, John M. Maris |
| Abstract |
Common copy number variations (CNVs) represent a significant source of genetic diversity, yet their influence on phenotypic variability, including disease susceptibility, remains poorly understood. To address this problem in human cancer, we performed a genome-wide association study of CNVs in the childhood cancer neuroblastoma, a disease in which single nucleotide polymorphism variations are known to influence susceptibility. We first genotyped 846 Caucasian neuroblastoma patients and 803 healthy Caucasian controls at approximately 550,000 single nucleotide polymorphisms, and performed a CNV-based test for association. We then replicated significant observations in two independent sample sets comprised of a total of 595 cases and 3,357 controls. Here we describe the identification of a common CNV at chromosome 1q21.1 associated with neuroblastoma in the discovery set, which was confirmed in both replication sets. This CNV was validated by quantitative polymerase chain reaction, fluorescent in situ hybridization and analysis of matched tumour specimens, and was shown to be heritable in an independent set of 713 cancer-free parent-offspring trios. We identified a previously unknown transcript within the CNV that showed high sequence similarity to several neuroblastoma breakpoint family (NBPF) genes and represents a new member of this gene family (NBPF23). This transcript was preferentially expressed in fetal brain and fetal sympathetic nervous tissues, and the expression level was strictly correlated with CNV state in neuroblastoma cells. These data demonstrate that inherited copy number variation at 1q21.1 is associated with neuroblastoma and implicate a previously unknown neuroblastoma breakpoint family gene in early tumorigenesis of this childhood cancer. |
Mendeley readers
The data shown below were compiled from readership statistics for 269 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 5 | 2% |
| Netherlands | 2 | <1% |
| Germany | 2 | <1% |
| Belgium | 2 | <1% |
| Italy | 2 | <1% |
| Czechia | 1 | <1% |
| United Kingdom | 1 | <1% |
| France | 1 | <1% |
| Iceland | 1 | <1% |
| Other | 3 | 1% |
| Unknown | 249 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 66 | 25% |
| Researcher | 60 | 22% |
| Professor > Associate Professor | 18 | 7% |
| Student > Master | 17 | 6% |
| Student > Bachelor | 15 | 6% |
| Other | 59 | 22% |
| Unknown | 34 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 105 | 39% |
| Medicine and Dentistry | 54 | 20% |
| Biochemistry, Genetics and Molecular Biology | 43 | 16% |
| Neuroscience | 8 | 3% |
| Computer Science | 5 | 2% |
| Other | 19 | 7% |
| Unknown | 35 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 October 2023.
All research outputs
#5,338,695
of 25,373,627 outputs
Outputs from Nature
#60,174
of 97,785 outputs
Outputs of similar age
#22,673
of 122,120 outputs
Outputs of similar age from Nature
#330
of 521 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 78th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 97,785 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.4. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 122,120 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 521 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.