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Transcriptome and genome sequencing uncovers functional variation in humans

Overview of attention for article published in Nature, September 2013
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (82nd percentile)

Mentioned by

news
5 news outlets
blogs
8 blogs
twitter
124 X users
patent
9 patents
facebook
8 Facebook pages
wikipedia
5 Wikipedia pages
googleplus
2 Google+ users

Citations

dimensions_citation
1783 Dimensions

Readers on

mendeley
1991 Mendeley
citeulike
29 CiteULike
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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

X Demographics

The data shown below were collected from the profiles of 124 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 1,991 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 1838 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 531 27%
Researcher 500 25%
Student > Master 170 9%
Student > Bachelor 137 7%
Professor > Associate Professor 92 5%
Other 340 17%
Unknown 221 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 93 5%
Immunology and Microbiology 34 2%
Other 140 7%
Unknown 283 14%
Attention Score in Context

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
#218,184
of 24,525,936 outputs
Outputs from Nature
#12,935
of 95,293 outputs
Outputs of similar age
#1,572
of 202,936 outputs
Outputs of similar age from Nature
#182
of 1,035 outputs
Altmetric has tracked 24,525,936 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 95,293 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 101.8. 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 202,936 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.