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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Overview of attention for article published in Nature Genetics, July 2016
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About this Attention Score

  • 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 (88th percentile)

Mentioned by

news
33 news outlets
blogs
4 blogs
twitter
96 tweeters
patent
1 patent
facebook
6 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
243 Dimensions

Readers on

mendeley
509 Mendeley
citeulike
1 CiteULike
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Title
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Published in
Nature Genetics, July 2016
DOI 10.1038/ng.3622
Pubmed ID
Authors

Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry TC van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, R Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink

Abstract

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.

Twitter Demographics

The data shown below were collected from the profiles of 96 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 509 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 3 <1%
Germany 1 <1%
Korea, Republic of 1 <1%
Austria 1 <1%
Norway 1 <1%
Belgium 1 <1%
Spain 1 <1%
United States 1 <1%
Luxembourg 1 <1%
Other 0 0%
Unknown 498 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 106 21%
Researcher 91 18%
Student > Master 67 13%
Student > Bachelor 66 13%
Other 30 6%
Other 90 18%
Unknown 59 12%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 127 25%
Agricultural and Biological Sciences 101 20%
Neuroscience 88 17%
Medicine and Dentistry 64 13%
Computer Science 13 3%
Other 34 7%
Unknown 82 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 349. 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 12 November 2019.
All research outputs
#45,189
of 16,188,470 outputs
Outputs from Nature Genetics
#91
of 6,511 outputs
Outputs of similar age
#1,507
of 267,141 outputs
Outputs of similar age from Nature Genetics
#8
of 67 outputs
Altmetric has tracked 16,188,470 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 6,511 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 34.1. This one has done particularly well, scoring higher than 98% 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 267,141 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 67 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.