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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Guidelines for investigating causality of sequence variants in human disease
|
|---|---|
| Published in |
Nature, April 2014
|
| DOI | 10.1038/nature13127 |
| Pubmed ID | |
| Authors |
D. G. MacArthur, T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, R. B. Altman, S. E. Antonarakis, E. A. Ashley, J. C. Barrett, L. G. Biesecker, D. F. Conrad, G. M. Cooper, N. J. Cox, M. J. Daly, M. B. Gerstein, D. B. Goldstein, J. N. Hirschhorn, S. M. Leal, L. A. Pennacchio, J. A. Stamatoyannopoulos, S. R. Sunyaev, D. Valle, B. F. Voight, W. Winckler, C. Gunter |
| Abstract |
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development. |
X Demographics
The data shown below were collected from the profiles of 282 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 | 87 | 31% |
| United Kingdom | 29 | 10% |
| Spain | 9 | 3% |
| Canada | 9 | 3% |
| Switzerland | 8 | 3% |
| Japan | 6 | 2% |
| Netherlands | 4 | 1% |
| Australia | 4 | 1% |
| Italy | 4 | 1% |
| Other | 35 | 12% |
| Unknown | 87 | 31% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 136 | 48% |
| Scientists | 129 | 46% |
| Science communicators (journalists, bloggers, editors) | 10 | 4% |
| Practitioners (doctors, other healthcare professionals) | 7 | 2% |
Mendeley readers
The data shown below were compiled from readership statistics for 1,999 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 42 | 2% |
| United Kingdom | 21 | 1% |
| Germany | 10 | <1% |
| Spain | 9 | <1% |
| Brazil | 7 | <1% |
| France | 6 | <1% |
| Italy | 6 | <1% |
| South Africa | 5 | <1% |
| Australia | 5 | <1% |
| Other | 44 | 2% |
| Unknown | 1844 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 476 | 24% |
| Researcher | 475 | 24% |
| Student > Master | 183 | 9% |
| Student > Bachelor | 141 | 7% |
| Other | 124 | 6% |
| Other | 419 | 21% |
| Unknown | 181 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 664 | 33% |
| Biochemistry, Genetics and Molecular Biology | 486 | 24% |
| Medicine and Dentistry | 348 | 17% |
| Computer Science | 75 | 4% |
| Neuroscience | 60 | 3% |
| Other | 138 | 7% |
| Unknown | 228 | 11% |
Attention Score in Context
This research output has an Altmetric Attention Score of 258. 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 24 May 2023.
All research outputs
#145,710
of 25,866,425 outputs
Outputs from Nature
#9,284
of 98,941 outputs
Outputs of similar age
#1,117
of 242,819 outputs
Outputs of similar age from Nature
#107
of 1,006 outputs
Altmetric has tracked 25,866,425 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 98,941 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.8. This one has done particularly well, scoring higher than 90% 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 242,819 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 99% of its contemporaries.
We're also able to compare this research output to 1,006 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.