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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Overview of attention for article published in Journal of Medical Genetics, October 2011
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Title
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
Published in
Journal of Medical Genetics, October 2011
DOI 10.1136/jmedgenet-2011-100372
Pubmed ID
Authors

D L Bruno, S M White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, D Francis, L Hills, K Prabhakara, C Ngo, F Norris, R Oertel, M D Pertile, Z Stark, D J Amor, H R Slater

Abstract

Several recent studies have demonstrated the use of single nucleotide polymorphism (SNP) arrays for the investigation of intellectual disability, developmental delay, autism or congenital abnormalities. In addition to LogR 'copy number' data, these arrays provide SNP genotyping data for gene level autozygosity mapping, estimating low levels of mosaicism, assessing long continuous stretches of homozygosity (LCSH), detection of uniparental disomy, and 'autozygous' regions. However, there remains little specific information on the clinical utility of this genotyping data.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 5%
Italy 1 3%
Unknown 36 92%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 23%
Other 6 15%
Student > Master 4 10%
Student > Postgraduate 3 8%
Student > Ph. D. Student 3 8%
Other 5 13%
Unknown 9 23%
Readers by discipline Count As %
Medicine and Dentistry 11 28%
Agricultural and Biological Sciences 8 21%
Biochemistry, Genetics and Molecular Biology 3 8%
Nursing and Health Professions 1 3%
Mathematics 1 3%
Other 4 10%
Unknown 11 28%
Attention Score in Context

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 01 November 2011.
All research outputs
#15,237,301
of 22,655,397 outputs
Outputs from Journal of Medical Genetics
#2,614
of 2,912 outputs
Outputs of similar age
#96,044
of 140,972 outputs
Outputs of similar age from Journal of Medical Genetics
#29
of 30 outputs
Altmetric has tracked 22,655,397 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,912 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one is in the 7th percentile – i.e., 7% 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 140,972 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 30 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.