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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Transcriptome and genome sequencing uncovers functional variation in humans
|
|---|---|
| Published in |
Nature, September 2013
|
| DOI | 10.1038/nature12531 |
| Pubmed ID | |
| Authors |
Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer, Peter A. C. ‘t Hoen, Jean Monlong, Manuel A. Rivas, Mar Gonzàlez-Porta, Natalja Kurbatova, Thasso Griebel, Pedro G. Ferreira, Matthias Barann, Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Almlöf, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Daniel G. MacArthur, Monkol Lek, Esther Lizano, Henk P. J. Buermans, Ismael Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltran, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Matti Pirinen, Stephen B. Montgomery, Peter Donnelly, Mark I. McCarthy, Paul Flicek, Tim M. Strom, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Ángel Carracedo, Stylianos E. Antonarakis, Robert Häsler, Ann-Christine Syvänen, Gert-Jan van Ommen, Alvis Brazma, Thomas Meitinger, Philip Rosenstiel, Roderic Guigó, Ivo G. Gut, Xavier Estivill, Emmanouil T. Dermitzakis |
| Abstract |
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. Here we report sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project--the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences. We discover extremely widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent. Our characterization of causal regulatory variation sheds light on the cellular mechanisms of regulatory and loss-of-function variation, and allows us to infer putative causal variants for dozens of disease-associated loci. Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome. |
X Demographics
The data shown below were collected from the profiles of 123 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 | 31 | 25% |
| United Kingdom | 15 | 12% |
| Spain | 9 | 7% |
| France | 6 | 5% |
| Australia | 4 | 3% |
| Switzerland | 3 | 2% |
| Canada | 3 | 2% |
| Germany | 2 | 2% |
| Norway | 1 | <1% |
| Other | 11 | 9% |
| Unknown | 38 | 31% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 63 | 51% |
| Members of the public | 50 | 41% |
| Practitioners (doctors, other healthcare professionals) | 6 | 5% |
| Science communicators (journalists, bloggers, editors) | 4 | 3% |
Mendeley readers
The data shown below were compiled from readership statistics for 1,994 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 47 | 2% |
| United Kingdom | 15 | <1% |
| Germany | 11 | <1% |
| France | 9 | <1% |
| Brazil | 9 | <1% |
| Netherlands | 7 | <1% |
| Spain | 7 | <1% |
| Sweden | 4 | <1% |
| Italy | 4 | <1% |
| Other | 40 | 2% |
| Unknown | 1841 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 533 | 27% |
| Researcher | 498 | 25% |
| Student > Master | 171 | 9% |
| Student > Bachelor | 137 | 7% |
| Professor > Associate Professor | 92 | 5% |
| Other | 339 | 17% |
| Unknown | 224 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 863 | 43% |
| Biochemistry, Genetics and Molecular Biology | 434 | 22% |
| Medicine and Dentistry | 144 | 7% |
| Computer Science | 92 | 5% |
| Immunology and Microbiology | 34 | 2% |
| Other | 141 | 7% |
| Unknown | 286 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 175. 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 29 August 2023.
All research outputs
#235,492
of 25,736,439 outputs
Outputs from Nature
#13,564
of 98,631 outputs
Outputs of similar age
#1,643
of 211,232 outputs
Outputs of similar age from Nature
#181
of 1,035 outputs
Altmetric has tracked 25,736,439 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 98,631 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.7. This one has done well, scoring higher than 86% 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 211,232 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 1,035 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 82% of its contemporaries.