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X Demographics
Mendeley readers
Attention Score in Context
| Title |
The UK10K project identifies rare variants in health and disease
|
|---|---|
| Published in |
Nature, September 2015
|
| DOI | 10.1038/nature14962 |
| Pubmed ID | |
| Authors |
Klaudia Walter, Josine L. Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John R. B. Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E. Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V. Wain, Inês Barroso, Steve E. Humphries, Matthew E. Hurles, Eleftheria Zeggini, Jeffrey C. Barrett, Vincent Plagnol, J. Brent Richards, Celia M. T. Greenwood, Nicholas J. Timpson, Richard Durbin, Nicole Soranzo, Senduran Bala, Peter Clapham, Guy Coates, Tony Cox, Allan Daly, Petr Danecek, Yuanping Du, Richard Durbin, Sarah Edkins, Peter Ellis, Paul Flicek, Xiaosen Guo, Xueqin Guo, Liren Huang, David K. Jackson, Chris Joyce, Thomas Keane, Anja Kolb-Kokocinski, Cordelia Langford, Yingrui Li, Jieqin Liang, Hong Lin, Ryan Liu, John Maslen, Shane McCarthy, Dawn Muddyman, Michael A. Quail, Jim Stalker, Jianping Sun, Jing Tian, Guangbiao Wang, Jun Wang, Yu Wang, Kim Wong, Pingbo Zhang, Inês Barroso, Ewan Birney, Chris Boustred, Lu Chen, Gail Clement, Massimiliano Cocca, Petr Danecek, George Davey Smith, Ian N. M. Day, Aaron Day-Williams, Thomas Down, Ian Dunham, Richard Durbin, David M. Evans, Tom R. Gaunt, Matthias Geihs, Celia M. T. Greenwood, Deborah Hart, Audrey E. Hendricks, Bryan Howie, Jie Huang, Tim Hubbard, Pirro Hysi, Valentina Iotchkova, Yalda Jamshidi, Konrad J. Karczewski, John P. Kemp, Genevieve Lachance, Daniel Lawson, Monkol Lek, Margarida Lopes, Daniel G. MacArthur, Jonathan Marchini, Massimo Mangino, Iain Mathieson, Shane McCarthy, Yasin Memari, Sarah Metrustry, Josine L. Min, Alireza Moayyeri, Dawn Muddyman, Kate Northstone, Kalliope Panoutsopoulou, Lavinia Paternoster, John R. B. Perry, Lydia Quaye, J. Brent Richards, Susan Ring, Graham R. S. Ritchie, Stephan Schiffels, Hashem A. Shihab, So-Youn Shin, Kerrin S. Small, María Soler Artigas, Nicole Soranzo, Lorraine Southam, Timothy D. Spector, Beate St Pourcain, Gabriela Surdulescu, Ioanna Tachmazidou, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Peter M. Visscher, Louise V. Wain, Klaudia Walter, Kirsten Ward, Scott G. Wilson, Kim Wong, Jian Yang, Eleftheria Zeggini, Feng Zhang, Hou-Feng Zheng, Richard Anney, Muhammad Ayub, Jeffrey C. Barrett, Douglas Blackwood, Patrick F. Bolton, Gerome Breen, David A. Collier, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Richard Durbin, Louise Gallagher, Daniel Geschwind, Hugh Gurling, Peter Holmans, Irene Lee, Jouko Lönnqvist, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, James Morris, Dawn Muddyman, Michael C. O'Donovan, Michael J. Owen, Aarno Palotie, Jeremy R. Parr, Tiina Paunio, Olli Pietilainen, Karola Rehnström, Sally I. Sharp, David Skuse, David St Clair, Jaana Suvisaari, James T. R. Walters, Hywel J. Williams, Inês Barroso, Elena Bochukova, Rebecca Bounds, Anna Dominiczak, Richard Durbin, I. Sadaf Farooqi, Audrey E. Hendricks, Julia Keogh, Gaëlle Marenne, Shane McCarthy, Andrew Morris, Dawn Muddyman, Stephen O'Rahilly, David J. Porteous, Blair H. Smith, Ioanna Tachmazidou, Eleanor Wheeler, Eleftheria Zeggini, Saeed Al Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Mattia Calissano, Keren Carss, Krishna Chatterjee, Sebahattin Cirak, Catherine Cosgrove, Richard Durbin, David R. Fitzpatrick, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Detelina Grozeva, Steve E. Humphries, Matthew E. Hurles, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O'Rahilly, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, F. Lucy Raymond, Nicola Roberts, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Olivera Spasic-Boskovic, Elizabeth Stevens, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Kathleen A. Williamson, Crispian Wilson, Tamieka Whyte, Antonio Ciampi, Celia M. T. Greenwood, Audrey E. Hendricks, Rui Li, Sarah Metrustry, Karim Oualkacha, Ioanna Tachmazidou, ChangJiang Xu, Eleftheria Zeggini, Martin Bobrow, Patrick F. Bolton, Richard Durbin, David R. Fitzpatrick, Heather Griffin, Matthew E. Hurles, Jane Kaye, Karen Kennedy, Alastair Kent, Dawn Muddyman, Francesco Muntoni, F. Lucy Raymond, Robert K. Semple, Carol Smee, Timothy D. Spector, Nicholas J. Timpson, Ruth Charlton, Rosemary Ekong, Marta Futema, Steve E. Humphries, Farrah Khawaja, Luis R. Lopes, Nicola Migone, Stewart J. Payne, Vincent Plagnol, Rebecca C. Pollitt, Sue Povey, Cheryl K. Ridout, Rachel L. Robinson, Richard H. Scott, Adam Shaw, Petros Syrris, Rohan Taylor, Anthony M. Vandersteen, Jeffrey C. Barrett, Inês Barroso, George Davey Smith, Richard Durbin, I. Sadaf Farooqi, David R. Fitzpatrick, Matthew E. Hurles, Jane Kaye, Karen Kennedy, Cordelia Langford, Shane McCarthy, Dawn Muddyman, Michael J. Owen, Aarno Palotie, J. Brent Richards, Nicole Soranzo, Timothy D. Spector, Jim Stalker, Nicholas J. Timpson, Eleftheria Zeggini, Antoinette Amuzu, Juan Pablo Casas, John C. Chambers, Massimiliano Cocca, George Dedoussis, Giovanni Gambaro, Paolo Gasparini, Tom R. Gaunt, Jie Huang, Valentina Iotchkova, Aaron Isaacs, Jon Johnson, Marcus E. Kleber, Jaspal S. Kooner, Claudia Langenberg, Jian'an Luan, Giovanni Malerba, Winfried März, Angela Matchan, Josine L. Min, Richard Morris, Børge G. Nordestgaard, Marianne Benn, Susan Ring, Robert A. Scott, Nicole Soranzo, Lorraine Southam, Nicholas J. Timpson, Daniela Toniolo, Michela Traglia, Anne Tybjaerg-Hansen, Cornelia M. van Duijn, Elisabeth M. van Leeuwen, Anette Varbo, Peter Whincup, Gianluigi Zaza, Eleftheria Zeggini, Weihua Zhang |
| Abstract |
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results. |
X Demographics
The data shown below were collected from the profiles of 199 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 | 43 | 22% |
| United Kingdom | 27 | 14% |
| Australia | 5 | 3% |
| Spain | 5 | 3% |
| France | 4 | 2% |
| Japan | 3 | 2% |
| Ireland | 3 | 2% |
| Canada | 3 | 2% |
| Saudi Arabia | 2 | 1% |
| Other | 23 | 12% |
| Unknown | 81 | 41% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 117 | 59% |
| Scientists | 72 | 36% |
| Science communicators (journalists, bloggers, editors) | 6 | 3% |
| Practitioners (doctors, other healthcare professionals) | 4 | 2% |
Mendeley readers
The data shown below were compiled from readership statistics for 1,183 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 16 | 1% |
| United Kingdom | 15 | 1% |
| Germany | 5 | <1% |
| Spain | 3 | <1% |
| Canada | 3 | <1% |
| Hong Kong | 2 | <1% |
| Denmark | 2 | <1% |
| Italy | 2 | <1% |
| France | 2 | <1% |
| Other | 15 | 1% |
| Unknown | 1118 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 288 | 24% |
| Student > Ph. D. Student | 266 | 22% |
| Student > Master | 137 | 12% |
| Student > Bachelor | 74 | 6% |
| Other | 52 | 4% |
| Other | 193 | 16% |
| Unknown | 173 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 340 | 29% |
| Biochemistry, Genetics and Molecular Biology | 301 | 25% |
| Medicine and Dentistry | 143 | 12% |
| Computer Science | 56 | 5% |
| Neuroscience | 22 | 2% |
| Other | 109 | 9% |
| Unknown | 212 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 208. 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 04 October 2023.
All research outputs
#191,005
of 25,706,302 outputs
Outputs from Nature
#11,486
of 98,561 outputs
Outputs of similar age
#2,296
of 281,451 outputs
Outputs of similar age from Nature
#255
of 1,001 outputs
Altmetric has tracked 25,706,302 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 98,561 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.6. This one has done well, scoring higher than 88% 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 281,451 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 1,001 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.