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The UK10K project identifies rare variants in health and disease
- Source :
- 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962, Nature, Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R, Vandersteen, A M, Barrett, J C, Barroso, I, Smith, G D, Durbin, R, Farooqi, I S, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962, Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962, Nature, 526(7571). Nature Publishing Group, Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
- Publication Year :
- 2015
-
Abstract
- M. Kivimäki työryhmäjäsen. 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, 7x) or exomes (high read depth, 80x) 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.
- Subjects :
- APOC3
Male
Genome-wide association study
genetics,UK10K,Whole-genome sequencing
Genome-wide association studies
Next-generation sequencing, Genome-wide association studies, rare and low-frequency variants
Cohort Studies
OF-FUNCTION MUTATIONS
genetics
Disease
Exome
Exome sequencing
POPULATION
Genetics
education.field_of_study
Multidisciplinary
HERITABILITY
Great Britain
Genomics
Reference Standards
Multidisciplinary Sciences
Health
Science & Technology - Other Topics
INCIDENTAL FINDINGS
LOW-FREQUENCY
Female
Adiponectin
General Science & Technology
Genetics, Medical
Population
Computational biology
Biology
Article
MD Multidisciplinary
SEQUENCE VARIATION
UK10K Consortium
Humans
Genetic Predisposition to Disease
GENOME-WIDE ASSOCIATION
education
COMMON
Alleles
Triglycerides
Genetic association
Whole genome sequencing
Whole-genome sequencing
Science & Technology
Genome, Human
COMPLEX TRAITS
Genetic Variation
Molecular Sequence Annotation
Sequence Analysis, DNA
Lipid Metabolism
United Kingdom
3141 Health care science
Genetics, Population
UK10K
Receptors, LDL
Next-generation sequencing
rare and low-frequency variants
Imputation (genetics)
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 14764687 and 00280836
- Database :
- OpenAIRE
- Journal :
- 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962, Nature, Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R, Vandersteen, A M, Barrett, J C, Barroso, I, Smith, G D, Durbin, R, Farooqi, I S, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962, Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962, Nature, 526(7571). Nature Publishing Group, Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
- Accession number :
- edsair.doi.dedup.....e1c98ee0e2168e0883e84613d6b6f995