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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Population- and individual-specific regulatory variation in Sardinia
|
|---|---|
| Published in |
Nature Genetics, April 2017
|
| DOI | 10.1038/ng.3840 |
| Pubmed ID | |
| Authors |
Mauro Pala, Zachary Zappala, Mara Marongiu, Xin Li, Joe R Davis, Roberto Cusano, Francesca Crobu, Kimberly R Kukurba, Michael J Gloudemans, Frederic Reinier, Riccardo Berutti, Maria G Piras, Antonella Mulas, Magdalena Zoledziewska, Michele Marongiu, Elena P Sorokin, Gaelen T Hess, Kevin S Smith, Fabio Busonero, Andrea Maschio, Maristella Steri, Carlo Sidore, Serena Sanna, Edoardo Fiorillo, Michael C Bassik, Stephen J Sawcer, Alexis Battle, John Novembre, Chris Jones, Andrea Angius, Gonçalo R Abecasis, David Schlessinger, Francesco Cucca, Stephen B Montgomery |
| Abstract |
Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk. |
X Demographics
The data shown below were collected from the profiles of 51 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 | 18 | 35% |
| United Kingdom | 8 | 16% |
| Italy | 5 | 10% |
| Germany | 1 | 2% |
| Canada | 1 | 2% |
| Korea, Republic of | 1 | 2% |
| Spain | 1 | 2% |
| France | 1 | 2% |
| Russia | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 13 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 25 | 49% |
| Scientists | 25 | 49% |
| Science communicators (journalists, bloggers, editors) | 1 | 2% |
Mendeley readers
The data shown below were compiled from readership statistics for 126 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Mexico | 1 | <1% |
| United States | 1 | <1% |
| Unknown | 124 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 31 | 25% |
| Student > Ph. D. Student | 27 | 21% |
| Student > Bachelor | 10 | 8% |
| Professor > Associate Professor | 9 | 7% |
| Student > Master | 9 | 7% |
| Other | 20 | 16% |
| Unknown | 20 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 47 | 37% |
| Agricultural and Biological Sciences | 33 | 26% |
| Medicine and Dentistry | 8 | 6% |
| Computer Science | 5 | 4% |
| Neuroscience | 3 | 2% |
| Other | 8 | 6% |
| Unknown | 22 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 43. 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 06 December 2022.
All research outputs
#944,569
of 25,196,456 outputs
Outputs from Nature Genetics
#1,655
of 7,547 outputs
Outputs of similar age
#19,273
of 316,177 outputs
Outputs of similar age from Nature Genetics
#52
of 80 outputs
Altmetric has tracked 25,196,456 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,547 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 43.0. This one has done well, scoring higher than 78% 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 316,177 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 80 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.