Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Autor: Lorraine Southam, Arthur Gilly, Dániel Süveges, Aliki-Eleni Farmaki, Jeremy Schwartzentruber, Ioanna Tachmazidou, Angela Matchan, Nigel W. Rayner, Emmanouil Tsafantakis, Maria Karaleftheri, Yali Xue, George Dedoussis, Eleftheria Zeggini

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

Isolated populations can provide useful information on low-frequency variants for dissecting genetic architecture of complex traits. Here, Zeggini and colleagues show enrichment of rare and low-frequency variants and 8 novel low-frequency variant sig

Externí odkaz: https://doaj.org/article/e3b1f1065eac445cb9cf66847168b057

Functional linkage of gene fusions to cancer cell fitness assessed by pharmacological and CRISPR-Cas9 screening

Autor: Julio Saez-Rodriguez, Graham R. Bignell, Euan A. Stronach, Beiyuan Fu, Angela Matchan, Fiona M. Behan, Emanuel Gonçalves, Ruby Banerjee, Elisabeth Chen, Ultan McDermott, Gabriele Picco, Fengtang Yang, Kosuke Yusa, Luz Garcia Alonso, Cyril H. Benes, David J. Dow, Adam Butler, Elizabeth Anderson, Francesco Iorio, Mathew J. Garnett

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Nature Communications

Many gene fusions are reported in tumours and for most their role remains unknown. As fusions are used for diagnostic and prognostic purposes, and are targets for treatment, it is crucial to assess their function in cancer. To systematically investig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e59227420fb1fc4592cbf1bb8cb97b3
https://doaj.org/article/faee146ac94c4c129948d57be9f339e0

Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Autor: Marcus E. Kleber, Lu Chen, Farmaki A-E., Tom R. Gaunt, C.M. van Duijn, Gianluigi Zaza, Charles Kooperberg, Abbas Dehghan, Oscar H. Franco, Jian'an Luan, Matthew T. Maurano, Mattia Frontini, Nicole Soranzo, Giovanni Malerba, George Dedoussis, Tao Jiang, Heather Elding, Michela Traglia, Raha Pazoki, Robert A. Scott, Maria Sabater-Lleal, Mattias Frånberg, J L Min, Daniela Toniolo, Valentina Iotchkova, Paul L. Auer, Adam S. Butterworth, E. C. M. van Leeuwen, Daniel Mead, Christopher S. Franklin, Anders Hamsten, Yasin Memari, André G. Uitterlinden, William J. Astle, Lorraine Southam, Claudia Langenberg, Jie Huang, Massimiliano Cocca, Fernando Rivadeneira, Alexander P. Reiner, Patrick Deelen, John A. Morris, Giovanni Gambaro, Ioanna Ntalla, Aaron Isaacs, Genevieve Lachance, Winfried März, N J Timpson, Perry Jrb., Kalliope Panoutsopoulou, Najaf Amin, Hugh Watkins, Albert Hofman, John C. Chambers, Lude Franke, Eleftheria Zeggini, Weihua Zhang, Shin S-Y., Caterina Barbieri, Deepti Jain, Bengt Sennblad, Angela Matchan, Jaspal S. Kooner, Klaudia Walter, Morris A. Swertz, Paolo Gasparini, F van Dijk

Correction to: Nature Genetics https://doi.org/10.1038/ng.3668, published online 26 September 2016. In the version of the article published, the surname of author Aaron Isaacs is misspelled as Issacs.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d74ed7ba52e019d67541409b4c744648
http://hdl.handle.net/10044/1/71879

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Autor: George Dedoussis, Eleftheria Zeggini, Arthur Gilly, Jeremy Schwartzentruber, Emmanouil Tsafantakis, Ioanna Tachmazidou, Aliki-Eleni Farmaki, Lorraine Southam, Maria Karaleftheri, Yali Xue, Nigel W. Rayner, Angela Matchan, Daniel Suveges

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature Communications

Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolated population, and show enrichment of r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a27aab0d69d480a8477116193d12d6
https://doi.org/10.1038/ncomms15606

Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

Autor: Graham R. S. Ritchie, Massimiliano Cocca, Anette Varbo, Nicholas J. Timpson, George Dedoussis, Michael Boehnke, Marjolein N. Kooijman, Beate St Pourcain, Yasin Memari, André G. Uitterlinden, Andrew A Crawford, Eleftheria Zeggini, Fernando Rivadeneira, Satu Männistö, Caroline L Relton, Yali Xue, Petr Danecek, Kalliope Panoutsopoulou, Albert Hofman, George Davey Smith, María Soler Artigas, Michela Traglia, Josine L. Min, Weihua Zhang, Janine F. Felix, Christopher J Hammond, Claudia Langenberg, Jie Huang, Brian R. Walker, Narinder Bansal, Nigel W. Rayner, Emanuele Di Angelantonio, Kerrin S. Small, Konstantinos Hatzikotoulas, Cecilia M. Lindgren, Alisa K. Manning, Shane A. McCarthy, Susan M. Ring, Marcus E. Kleber, Abhishek Nag, Oliver Stegle, Paul Burton, Oscar H. Franco, William R. Scott, Carolina Medina-Gomez, Valentina Iotchkova, John R. B. Perry, Alireza Moayyeri, Lavinia Paternoster, Marianne Benn, Markus Perola, Katerina Trajanoska, Inês Barroso, Audrey E. Hendricks, Cinzia Sala, Carlo Sidore, Celia M. T. Greenwood, Jeremy Schwartzentruber, Richard Durbin, Cristina Bombieri, Klaudia Walter, Wei-Yu Lin, Hashem A. Shihab, Gialuigi Zaza, Jaspal S. Kooner, Magdalena Zoledziewska, Angela Matchan, Adam S. Butterworth, Pekka Jousilahti, Julia Steinberg, Anne Tybjærg-Hansen, John P. Kemp, Daniel Suveges, Nicole Soranzo, Chris Finan, Veikko Salomaa, Ioanna Ntalla, Nicholas J. Wareham, Adam E. Locke, Vincent W. V. Jaddoe, Ioanna Tachmazidou, Daniela Toniolo, Scott Wilson, Antonella Mulas, Aliki-Eleni Farmaki, Lorraine Southam, Martin D. Tobin, Tom R. Gaunt, Zhongsheng Chen, Paolo Gasparini, Andrew P. Morris, Giovanni Gambaro, John C. Chambers, Børge G. Nordestgaard, Sarah Metrustry, Benjamin Lehne, Jian'an Luan, Giovanni Malerba, Robert A. Scott, Mark I. McCarthy, Michal Szpak, Francesco Cucca, Tim D. Spector

Publikováno v: American Journal of Human Genetics, 100(6), 865-884. Cell Press
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, McCarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J, Zeggini, E & Bansal, N 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
The American Journal of Human Genetics
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A J, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A E, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Nordestgaard, B G & SpiroMeta Consortium 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
AMERICAN JOURNAL OF HUMAN GENETICS
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, Mccarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, Mccarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J & Zeggini, E 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, McCarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J & Zeggini, E 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865–884 . https://doi.org/10.1016/j.ajhg.2017.04.014

Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole genome sequencing (WGS) and deep im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204f2ad0000de30434091d05a9fc3854
http://hdl.handle.net/11562/965145