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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
|
|---|---|
| Published in |
BMC Medical Genomics, January 2016
|
| DOI | 10.1186/s12920-015-0163-4 |
| Pubmed ID | |
| Authors |
Yu An, Wenyuan Duan, Guoying Huang, Xiaoli Chen, Li Li, Chenxia Nie, Jia Hou, Yonghao Gui, Yiming Wu, Feng Zhang, Yiping Shen, Bailin Wu, Hongyan Wang |
| Abstract |
Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number variation (CNV) has been highlighted as a possible contributing factor to the etiology of many congenital diseases. However, little is known concerning the involvement of CNVs in either isolated or complex VSDs. We analyzed 154 unrelated Chinese individuals with VSD by chromosomal microarray analysis. The subjects were recruited from four hospitals across China. Each case underwent clinical assessment to define the type of VSD, either isolated or complex VSD. CNVs detected were categorized into syndrom related CNVs, recurrent CNVs and rare CNVs. Genes encompassed by the CNVs were analyzed using enrichment and pathway analysis. Among 154 probands, we identified 29 rare CNVs in 26 VSD patients (16.9 %, 26/154) and 8 syndrome-related CNVs in 8 VSD patients (5.2 %, 8/154). 12 of the detected 29 rare CNVs (41.3 %) were recurrently reported in DECIPHER or ISCA database as associated with either VSD or general heart disease. Fifteen genes (5 %, 15/285) within CNVs were associated with a broad spectrum of complicated CHD. Among these15 genes, 7 genes were in "abnormal interventricular septum morphology" derived from the MGI (mouse genome informatics) database, and nine genes were associated with cardiovascular system development (GO:0072538).We also found that these VSD-related candidate genes are enriched in chromatin binding and transcription regulation, which are the biological processes underlying heart development. Our study demonstrates the potential clinical diagnostic utility of genomic imbalance profiling in VSD patients. Additionally, gene enrichment and pathway analysis helped us to implicate VSD related candidate genes. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 40 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 9 | 23% |
| Researcher | 5 | 13% |
| Student > Ph. D. Student | 5 | 13% |
| Lecturer > Senior Lecturer | 3 | 8% |
| Student > Doctoral Student | 3 | 8% |
| Other | 6 | 15% |
| Unknown | 9 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 20% |
| Biochemistry, Genetics and Molecular Biology | 8 | 20% |
| Agricultural and Biological Sciences | 3 | 8% |
| Engineering | 3 | 8% |
| Nursing and Health Professions | 2 | 5% |
| Other | 6 | 15% |
| Unknown | 10 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 09 January 2016.
All research outputs
#19,466,469
of 24,792,414 outputs
Outputs from BMC Medical Genomics
#889
of 1,352 outputs
Outputs of similar age
#279,733
of 404,946 outputs
Outputs of similar age from BMC Medical Genomics
#20
of 25 outputs
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So far Altmetric has tracked 1,352 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
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