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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
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|---|---|
| Published in |
Genetics in Medicine, March 2018
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| DOI | 10.1038/gim.2018.39 |
| Pubmed ID | |
| Authors |
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary-Louise Freckmann, Michelle Lipke, Rani Sachdev, David Miller, Michael Field, Marcel E Dinger, Michael F Buckley, Mark J Cowley, Tony Roscioli |
| Abstract |
PurposeWhole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.MethodsWES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology. Reanalysis was performed after 12 months with an improved WES diagnostic pipeline. A comparison was made between costs of a modeled WES pathway and a traditional diagnostic pathway in a cohort with intellectual disability (ID).ResultsReanalysis of WES data at 12 months improved diagnostic success from 30 to 41% due to interim publication of disease genes, expanded phenotype data from referrer, and an improved bioinformatics pipeline. Cost analysis on the ID cohort showed average cost savings of US$586 (AU$782) for each additional diagnosis.ConclusionEarly application of WES in Mendelian disorders is cost-effective and reanalysis of an undiagnosed individual at a 12-month time point increases total diagnoses by 11%.GENETICS in MEDICINE advance online publication, 29 March 2018; doi:10.1038/gim.2018.39. |
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 % |
|---|---|---|
| Netherlands | 5 | 23% |
| United Kingdom | 4 | 18% |
| United States | 3 | 14% |
| France | 1 | 5% |
| New Zealand | 1 | 5% |
| Greece | 1 | 5% |
| Saudi Arabia | 1 | 5% |
| Unknown | 6 | 27% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 14 | 64% |
| Scientists | 5 | 23% |
| Science communicators (journalists, bloggers, editors) | 2 | 9% |
| Practitioners (doctors, other healthcare professionals) | 1 | 5% |
Mendeley readers
The data shown below were compiled from readership statistics for 177 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 177 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 30 | 17% |
| Student > Ph. D. Student | 17 | 10% |
| Other | 15 | 8% |
| Student > Master | 15 | 8% |
| Student > Bachelor | 12 | 7% |
| Other | 34 | 19% |
| Unknown | 54 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 54 | 31% |
| Medicine and Dentistry | 25 | 14% |
| Agricultural and Biological Sciences | 9 | 5% |
| Economics, Econometrics and Finance | 5 | 3% |
| Unspecified | 4 | 2% |
| Other | 18 | 10% |
| Unknown | 62 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 18. 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 22 October 2019.
All research outputs
#2,112,459
of 26,017,215 outputs
Outputs from Genetics in Medicine
#721
of 2,978 outputs
Outputs of similar age
#43,948
of 348,137 outputs
Outputs of similar age from Genetics in Medicine
#19
of 57 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,978 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.2. This one has done well, scoring higher than 75% 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 348,137 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 57 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 66% of its contemporaries.