| Title |
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
|
|---|---|
| Published in |
Current Genetic Medicine Reports, July 2014
|
| DOI | 10.1007/s40142-014-0048-4 |
| Pubmed ID | |
| Authors |
Erin Rooney Riggs, David H. Ledbetter, Christa Lese Martin |
| Abstract |
One of the most fundamental goals of the study of human genetics was to determine the relationship between genomic variation and human disease. The effects of large-scale structural variation, such as aneuploidy and other cytogenetically visible imbalances, as well as sequence-level variation, have been studied for several decades. However, compared to these, the impact of submicroscopic copy number variants (CNV) has only recently been appreciated. Despite this, lessons learned from the study of CNVs have already proven significant and broadly applicable. From expanding the concept of normal human variation to providing concrete examples of the utility of genomics in clinical care and challenging notions of the genetic architecture of complex disease, CNVs have provided valuable insights into the genomics of human health and development. |
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 % |
|---|---|---|
| Ireland | 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 62 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 2% |
| Brazil | 1 | 2% |
| Canada | 1 | 2% |
| Thailand | 1 | 2% |
| United States | 1 | 2% |
| Unknown | 57 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 15 | 24% |
| Researcher | 11 | 18% |
| Student > Master | 11 | 18% |
| Student > Bachelor | 7 | 11% |
| Student > Postgraduate | 4 | 6% |
| Other | 8 | 13% |
| Unknown | 6 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 26 | 42% |
| Biochemistry, Genetics and Molecular Biology | 13 | 21% |
| Medicine and Dentistry | 8 | 13% |
| Computer Science | 2 | 3% |
| Nursing and Health Professions | 1 | 2% |
| Other | 4 | 6% |
| Unknown | 8 | 13% |
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 08 September 2014.
All research outputs
#17,724,588
of 22,760,687 outputs
Outputs from Current Genetic Medicine Reports
#79
of 115 outputs
Outputs of similar age
#154,702
of 228,762 outputs
Outputs of similar age from Current Genetic Medicine Reports
#5
of 11 outputs
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