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X Demographics
Mendeley readers
Attention Score in Context
| Title |
From Days to Hours: Reporting Clinically Actionable Variants from Whole Genome Sequencing
|
|---|---|
| Published in |
PLOS ONE, February 2014
|
| DOI | 10.1371/journal.pone.0086803 |
| Pubmed ID | |
| Authors |
Sumit Middha, Saurabh Baheti, Steven N. Hart, Jean-Pierre A. Kocher |
| Abstract |
As the cost of whole genome sequencing (WGS) decreases, clinical laboratories will be looking at broadly adopting this technology to screen for variants of clinical significance. To fully leverage this technology in a clinical setting, results need to be reported quickly, as the turnaround rate could potentially impact patient care. The latest sequencers can sequence a whole human genome in about 24 hours. However, depending on the computing infrastructure available, the processing of data can take several days, with the majority of computing time devoted to aligning reads to genomics regions that are to date not clinically interpretable. In an attempt to accelerate the reporting of clinically actionable variants, we have investigated the utility of a multi-step alignment algorithm focused on aligning reads and calling variants in genomic regions of clinical relevance prior to processing the remaining reads on the whole genome. This iterative workflow significantly accelerates the reporting of clinically actionable variants with no loss of accuracy when compared to genotypes obtained with the OMNI SNP platform or to variants detected with a standard workflow that combines Novoalign and GATK. |
X Demographics
The data shown below were collected from the profiles of 22 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | 36% |
| United Kingdom | 3 | 14% |
| Montenegro | 1 | 5% |
| Malaysia | 1 | 5% |
| Ireland | 1 | 5% |
| France | 1 | 5% |
| Unknown | 7 | 32% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 11 | 50% |
| Members of the public | 9 | 41% |
| Practitioners (doctors, other healthcare professionals) | 2 | 9% |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 10% |
| United Kingdom | 1 | 3% |
| Sweden | 1 | 3% |
| Brazil | 1 | 3% |
| Unknown | 23 | 79% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 34% |
| Student > Ph. D. Student | 7 | 24% |
| Student > Bachelor | 4 | 14% |
| Other | 3 | 10% |
| Professor > Associate Professor | 2 | 7% |
| Other | 2 | 7% |
| Unknown | 1 | 3% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 10 | 34% |
| Biochemistry, Genetics and Molecular Biology | 8 | 28% |
| Computer Science | 5 | 17% |
| Engineering | 2 | 7% |
| Neuroscience | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 2 | 7% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. 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 25 November 2014.
All research outputs
#1,917,290
of 25,706,302 outputs
Outputs from PLOS ONE
#23,334
of 224,010 outputs
Outputs of similar age
#21,421
of 324,391 outputs
Outputs of similar age from PLOS ONE
#663
of 5,668 outputs
Altmetric has tracked 25,706,302 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 224,010 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.8. This one has done well, scoring higher than 89% 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 324,391 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 5,668 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.