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An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

Overview of attention for article published in BMC Bioinformatics, October 2017
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Title
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome
Published in
BMC Bioinformatics, October 2017
DOI 10.1186/s12859-017-1862-y
Pubmed ID
Authors

Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell

Abstract

Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations associated with complex traits are located outside the exome, it is crucial to investigate the potential pathogenic impact of indels in non-coding regions of the human genome. We present FATHMM-indel, an integrative approach to predict the functional effect, pathogenic or neutral, of indels in non-coding regions of the human genome. Our method exploits various genomic annotations in addition to sequence data. When validated on benchmark data, FATHMM-indel significantly outperforms CADD and GAVIN, state of the art models in assessing the pathogenic impact of non-coding variants. FATHMM-indel is available via a web server at indels.biocompute.org.uk. FATHMM-indel can accurately predict the functional impact and prioritise small indels throughout the whole non-coding genome.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 42 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 17%
Student > Bachelor 6 14%
Student > Ph. D. Student 4 10%
Student > Master 4 10%
Other 3 7%
Other 5 12%
Unknown 13 31%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 36%
Agricultural and Biological Sciences 5 12%
Computer Science 3 7%
Neuroscience 3 7%
Economics, Econometrics and Finance 1 2%
Other 2 5%
Unknown 13 31%
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 09 October 2017.
All research outputs
#17,917,778
of 23,005,189 outputs
Outputs from BMC Bioinformatics
#5,965
of 7,312 outputs
Outputs of similar age
#231,268
of 323,390 outputs
Outputs of similar age from BMC Bioinformatics
#76
of 106 outputs
Altmetric has tracked 23,005,189 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 7,312 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.4. This one is in the 13th percentile – i.e., 13% 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 323,390 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 106 others from the same source and published within six weeks on either side of this one. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.