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Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

Overview of attention for article published in BMC Genetics, March 2015
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (59th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (58th percentile)

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3 tweeters
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1 Facebook page

Citations

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16 Dimensions

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30 Mendeley
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Title
Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder
Published in
BMC Genetics, March 2015
DOI 10.1186/s12863-015-0184-1
Pubmed ID
Authors

Rachel L Kember, Benjamin Georgi, Joan E Bailey-Wilson, Dwight Stambolian, Steven M Paul, Maja Bućan

Abstract

Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder. We identified CNV regions arising from common ancestral mutations by utilizing the pedigree information. By combining this analysis with whole genome sequence data in the same individuals, we also explored the role of compound heterozygosity. Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a large number of Amish individuals. In addition, we highlight a set of CNVs found at higher frequencies in BP individuals, and within genes known to play a role in human development and disease. As in prior reports, we find no evidence for an increased burden of CNVs in BP individuals, but we report a trend towards a higher burden of CNVs in known Mendelian disease loci in bipolar individuals (BPI and BPII, p = 0.06). We conclude that CNVs may be contributing factors in the phenotypic presentation of mood disorders and co-morbid medical conditions in this family. These results reinforce the hypothesis of a complex genetic architecture underlying BP disorder, and suggest that the role of CNVs should continue to be investigated in BP data sets.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 7%
United States 2 7%
Brazil 1 3%
Unknown 25 83%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 33%
Student > Ph. D. Student 4 13%
Student > Master 4 13%
Student > Bachelor 3 10%
Student > Postgraduate 2 7%
Other 5 17%
Unknown 2 7%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 23%
Agricultural and Biological Sciences 5 17%
Medicine and Dentistry 5 17%
Pharmacology, Toxicology and Pharmaceutical Science 2 7%
Neuroscience 2 7%
Other 3 10%
Unknown 6 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 January 2016.
All research outputs
#2,687,664
of 6,920,380 outputs
Outputs from BMC Genetics
#220
of 640 outputs
Outputs of similar age
#74,815
of 196,148 outputs
Outputs of similar age from BMC Genetics
#12
of 29 outputs
Altmetric has tracked 6,920,380 research outputs across all sources so far. This one has received more attention than most of these and is in the 59th percentile.
So far Altmetric has tracked 640 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 62% of its peers.
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 196,148 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.
We're also able to compare this research output to 29 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 58% of its contemporaries.