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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

Overview of attention for article published in Alzheimer's Research & Therapy, August 2012
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Title
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
Published in
Alzheimer's Research & Therapy, August 2012
DOI 10.1186/alzrt137
Pubmed ID
Authors

Sheng Chih Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Ibero-American Alzheimer Disease Genetics Group Researchers, Carlos Cruchaga

Abstract

Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic developments in next-generation sequencing (NGS), high-throughput sequencing of targeted genomic regions of the human genome in many individuals in a single run is now cheap and feasible. Recent findings favor the rare variant-common disease hypothesis by which the combination effects of rare variants could explain a large proportion of the heritability. We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort.

X Demographics

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The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 99 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Colombia 1 1%
United States 1 1%
Unknown 97 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 25 25%
Student > Ph. D. Student 23 23%
Student > Doctoral Student 8 8%
Student > Bachelor 8 8%
Other 5 5%
Other 18 18%
Unknown 12 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 26 26%
Biochemistry, Genetics and Molecular Biology 19 19%
Medicine and Dentistry 14 14%
Neuroscience 14 14%
Computer Science 3 3%
Other 10 10%
Unknown 13 13%
Attention Score in Context

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 16 October 2012.
All research outputs
#16,721,208
of 25,373,627 outputs
Outputs from Alzheimer's Research & Therapy
#1,334
of 1,464 outputs
Outputs of similar age
#120,068
of 186,119 outputs
Outputs of similar age from Alzheimer's Research & Therapy
#12
of 16 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,464 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.6. This one is in the 8th percentile – i.e., 8% 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 186,119 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.