Zobrazeno 1 - 10
of 20
pro vyhledávání: '"YuanPing Du"'
Autor:
Xingkun Yang, Qinghua Zhou, Wanjun Zhou, Mei Zhong, Xiaoling Guo, Xiaofeng Wang, Xin Fan, Shanhuo Yan, Liyan Li, Yunli Lai, Yongli Wang, Jin Huang, Yuhua Ye, Huaping Zeng, Jun Chuan, Yuanping Du, Chouxian Ma, Peining Li, Zhuo Song, Xiangmin Xu
Publikováno v:
Advanced Science, Vol 6, Iss 11, Pp n/a-n/a (2019)
Abstract Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicate
Externí odkaz:
https://doaj.org/article/5cab374deb354382b7aa49e125a844e0
Autor:
Jinghua Wu, Shan Jia, Changxi Wang, Wei Zhang, Shixi Liu, Xiaojing Zeng, Huirong Mai, Xiuli Yuan, Yuanping Du, Xiaodong Wang, Xueyu Hong, Xuemei Li, Feiqiu Wen, Xun Xu, Jianhua Pan, Changgang Li, Xiao Liu
Publikováno v:
Frontiers in Immunology, Vol 7 (2016)
Acute B lymphoblastic leukemia (B-ALL) is one of most common types of childhood cancer worldwide and chemotherapy is the main treatment approach. Despite good response rates to chemotherapy regiments, many patients eventually relapse and minimal resi
Externí odkaz:
https://doaj.org/article/c4ca07f8d1c744c7a93524ba7059e84f
Autor:
Xiao Liu, Wei Zhang, Xiaojing Zeng, Ruifang Zhang, Yuanping Du, Xueyu Hong, Hongzhi Cao, Zheng Su, Changxi Wang, Jinghua Wu, Chao Nie, Xun Xu, Karsten Kristiansen
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0152464 (2016)
High-throughput sequencing has recently been applied to profile the high diversity of antibodyome/B cell receptors (BCRs) and T cell receptors (TCRs) among immune cells. To date, Multiplex PCR (MPCR) and 5'RACE are predominately used to enrich rearra
Externí odkaz:
https://doaj.org/article/8ee4a180b5cc4aa99ebd2d52ea5781fa
Autor:
Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, ChouXian Ma, LinQi Tang, YuanPing Du, ShaoWei Zhang, Jordi Morata, Raúl Tonda, Genís Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Gungor Budak, Kübra Narcı, Elif Arslan, Richard Brown, Ivan J. Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Mian Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook
Publikováno v:
Cell genomics. 2(5)
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant call sets for
Autor:
Calvin Hung, Jean-Rémi Trotta, Severine Catreux, LinQi Tang, Kübra Narcı, Alexey Kolesnikov, Qian Liu, Mian Umair Ahsan, Emily Boja, Samuel T. Westreich, Özem Kalay, Andrew Carroll, Sinem Demirkaya-Budak, Ivan E. Johnson, Richard J. C. Brown, Benedict Paten, Howard Yang, Amit Jain, Genís Parra, José M. Lorenzo-Salazar, Ezekiel J. Maier, Mathieu Bourgey, ChouXian Ma, Justin Wagner, Miten Jain, Alexey Dolgoborodov, Mike Ruehle, Konstantinos Kyriakidis, David Jáspez, Omar Serang, Vladimir Semenyuk, Fritz J. Sedlazeck, Jordi Morata, Marghoob Mohiyuddin, Christian Brueffer, Chirag Jain, Li Tai Fang, Robert Eveleigh, Gunjan Baid, Sidharth Goel, Raul Tonda, Gungor Budak, Sarah H. Stephens, Maria Nattestad, ShaoWei Zhang, Deniz Turgut, Hanying Feng, Elaine Johanson, Luoqi Chen, H. Serhat Tetikol, Rami Mehio, Adrián Muñoz-Barrera, Gen Li, Guillaume Bourque, Duygu Kabakci-Zorlu, YuanPing Du, Trevor Pesout, Zhipan Li, Varun Jain, Nathan D. Olson, Sayed Mohammad Ebrahim Sahraeian, Anish G. Prasanna, Kishwar Shafin, Jennifer McDaniel, Bryan R. Lajoie, Pi-Chuan Chang, Justin M. Zook, Kai Wang, Cooper Roddey, Andigoni Malousi, Luis A. Rubio-Rodríguez, Carlos Flores, Elif Arslan
SummaryThe precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex (MHC). Starting with FASTQ files, 20 challenge participants applied their variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa124f52f2cce6e8e82ee7f918a9a681
https://doi.org/10.1101/2020.11.13.380741
https://doi.org/10.1101/2020.11.13.380741
Autor:
Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
Publikováno v:
Gorman, K M, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, K J, Bryant, E, Reich, A, Schneider, A L, Pressler, R M, Simpson, M A, Debelle, G D, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, A R, King, M D, Cross, J H, Poduri, A, Mefford, H C, Scheffer, I E, Haack, T B, McCullagh, G, Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J J, Carvill, G L, Clayton-Smith, J, Maher, E R, Raymond, F L & Kurian, M A 2019, ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ', American journal of human genetics, vol. 104, no. 5, pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005
American journal of human genetics, 104(5), 948-956. Cell Press
American journal of human genetics, 104(5), 948-956. Cell Press
© 2019 American Society of Human Genetics The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an i
Autor:
Elisabeth M. van Leeuwen, Jeroen F. J. Laros, Clara C. Elbers, Alexandros Kanterakis, Jessica van Setten, Cisca Wijmenga, Gonneke Willemsen, Vyacheslav Koval, Qibin Li, Sujie Cao, Jouke-Jan Hottenga, Jayne Y. Hehir-Kwa, Laurent C. Francioli, Kai Ye, Jeanine J. Houwing-Duistermaat, Morris A. Swertz, David van Enckevort, Sara L. Pulit, Karol Estrada, Hailiang Mai, Marian Beekman, Anton J. M. de Craen, Gert-Jan B. van Ommen, Ben A. Oostra, Androniki Menelaou, Hongzhi Cao, Martijn Dijkstra, Mathijs Kattenberg, Abdel Abdellaoui, Yingrui Li, Albert Hofman, Cornelia M. van Duijn, Martijn Vermaat, Eline Slagboom, Lennart C. Karssen, Johan T. den Dunnen, Freerk van Dijk, Fernanodo Rivadeneira, Dorret I. Boomsma, Ruoyan Chen, Patrick Deelen, Paul I.W. de Bakker, Peter de Knijff, Bruce H. R. Wolffenbuttel, Ning Li, Heorhiy Byelas, Victor Guryev, Yuanping Du, Pieter B. Neerincx, André G. Uitterlinden, Jun Wang, H. Eka D. Suchiman
Publikováno v:
European Journal of Human Genetics, 22(2), 221-227
Boomsma, D I, Wijmenga, C, Slagboom, P E, Swertz, M, Karssen, L C, Abdellaoui, A, Ye, K, Guryev, V, Vermaat, M, Dijk, F, Francioli, L C, Hottenga, J J, Laros, J F J, Li, Q, Li., Y, Cao, H, Chen, R, Du, Y, Li, N, Cao, S, van Setten, J, Menelaou, A, Pulit, S L, Hehir-Kwa, J Y, Beekman, M, Elbers, C C, Byelas, H, de Craen, A J, Deelen, P, Dijkstra, M, den Dunnen, J T, de Knijff, P, Houwing-Duistermaat, J J, Koval, V, Estrada, K, Hofman, A, Kanterakis, A, van Enckevort, D, Mai, H, Kattenberg, V M, van Leeuwen, E M, Neerincx, P B T, Oostra, B, Rivadeneira, F, Suchiman, H E D, Uitterlinden, A G, Willemsen, G, Wolffenbuttel, B H, Wang, J, Bakker, P I W, van Ommen, G J & van Duijn, C M 2014, ' The Genome of the Netherlands: design, and project goals ', European Journal of Human Genetics, vol. 22, no. 2, pp. 221-227 . https://doi.org/10.1038/ejhg.2013.118
European Journal of Human Genetics
European Journal of Human Genetics, 22(2), 221-227. Nature Publishing Group
Boomsma, D I, Wijmenga, C, Slagboom, E P, Swertz, M A, Karssen, L C, Abdellaoui, A, Ye, K, Guryev, V, Vermaat, M, van Dijk, F, Francioli, L C, Hottenga, J J, Laros, J F J, Li, Q, Li, Y, Cao, H, Chen, R, Du, Y, Li, N, Cao, S, van Setten, J, Menelaou, A, Pulit, S L, Hehir-Kwa, J Y, Beekman, M, Elbers, C C, Byelas, H, de Craen, A J M, Deelen, P, Dijkstra, M, den Dunnen, J T, de Knijff, P, Houwing-Duistermaat, J, Koval, V, Estrada, K, Hofman, A, Kanterakis, A, van Enckevort, D, Mai, H, Kattenberg, M, van Leeuwen, E M, Neerincx, P B T, Oostra, B, Rivadeneira, F, Suchiman, E H D, Uitterlinden, A G, Willemsen, G, Wolffenbuttel, B H, Wang, J, de Bakker, P I W, van Ommen, G-J & van Duijn, C M 2014, ' The Genome of the Netherlands : design, and project goals ', European Journal of Human Genetics, vol. 22, pp. 221-227 . https://doi.org/10.1038/ejhg.2013.118
European journal of human genetics, 22(2), 221-227. Nature Publishing Group
Boomsma, D I, Wijmenga, C, Slagboom, P E, Swertz, M, Karssen, L C, Abdellaoui, A, Ye, K, Guryev, V, Vermaat, M, Dijk, F, Francioli, L C, Hottenga, J J, Laros, J F J, Li, Q, Li., Y, Cao, H, Chen, R, Du, Y, Li, N, Cao, S, van Setten, J, Menelaou, A, Pulit, S L, Hehir-Kwa, J Y, Beekman, M, Elbers, C C, Byelas, H, de Craen, A J, Deelen, P, Dijkstra, M, den Dunnen, J T, de Knijff, P, Houwing-Duistermaat, J J, Koval, V, Estrada, K, Hofman, A, Kanterakis, A, van Enckevort, D, Mai, H, Kattenberg, V M, van Leeuwen, E M, Neerincx, P B T, Oostra, B, Rivadeneira, F, Suchiman, H E D, Uitterlinden, A G, Willemsen, G, Wolffenbuttel, B H, Wang, J, Bakker, P I W, van Ommen, G J & van Duijn, C M 2014, ' The Genome of the Netherlands: design, and project goals ', European Journal of Human Genetics, vol. 22, no. 2, pp. 221-227 . https://doi.org/10.1038/ejhg.2013.118
European Journal of Human Genetics
European Journal of Human Genetics, 22(2), 221-227. Nature Publishing Group
Boomsma, D I, Wijmenga, C, Slagboom, E P, Swertz, M A, Karssen, L C, Abdellaoui, A, Ye, K, Guryev, V, Vermaat, M, van Dijk, F, Francioli, L C, Hottenga, J J, Laros, J F J, Li, Q, Li, Y, Cao, H, Chen, R, Du, Y, Li, N, Cao, S, van Setten, J, Menelaou, A, Pulit, S L, Hehir-Kwa, J Y, Beekman, M, Elbers, C C, Byelas, H, de Craen, A J M, Deelen, P, Dijkstra, M, den Dunnen, J T, de Knijff, P, Houwing-Duistermaat, J, Koval, V, Estrada, K, Hofman, A, Kanterakis, A, van Enckevort, D, Mai, H, Kattenberg, M, van Leeuwen, E M, Neerincx, P B T, Oostra, B, Rivadeneira, F, Suchiman, E H D, Uitterlinden, A G, Willemsen, G, Wolffenbuttel, B H, Wang, J, de Bakker, P I W, van Ommen, G-J & van Duijn, C M 2014, ' The Genome of the Netherlands : design, and project goals ', European Journal of Human Genetics, vol. 22, pp. 221-227 . https://doi.org/10.1038/ejhg.2013.118
European journal of human genetics, 22(2), 221-227. Nature Publishing Group
Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with d
Autor:
Nicholas J. Timpson, Klaudia Walter, Josine L. Min, Ioanna Tachmazidou, Giovanni Malerba, So Youn Shin, Lu Chen, Marta Futema, Lorraine Southam, Valentina Iotchkova, Jie Huang, Yasin Memari, Shane McCarthy, Petr Danecek, Dawn Muddyman, Massimo Mangino, Cristina Menni, John R. B. Perry, Susan M. Ring, Amadou Gaye, George Dedoussis, Aliki Eleni Farmaki, Paul Burton, Philippa J. Talmud, Giovanni Gambaro, Tim D. Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Steve E. Humphries, Eleftheria Zeggini, Nicole Soranzo, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day Williams, Ian N. M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Louise Gallagher, Tom Gaunt, Matthias Geihs, Daniel Geschwind, Celia Greenwood, Heather Griffin, Detelina Grozeva, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Matthew E. Hurles, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Lotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Josine Min, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, John Perry, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Lucy Raymond, Karola Rehnström, Brent Richards, Susan Ring, Graham R. S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, Hasheem Shihab, David Skuse, Kerrin Small, Olivera Spasic Boskovic, Tim Spector, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Gabriela Surdulescu, Jaana Suvisaari, Ionna Tachmazidou, Nicholas Timpson, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, James T. R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Scott G. Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Hou Feng Zheng, COCCA, MASSIMILIANO
Publikováno v:
Nature Communications
Timpson, N J, Walter, K, Min, J L, Tachmazidou, I, Malerba, G, Shin, S-Y, Chen, L, Futema, M, Southam, L, Iotchkova, V, Cocca, M, Huang, J, Memari, Y, McCarthy, S, Danecek, P, Muddyman, D, Mangino, M, Menni, C, Perry, J R B, Ring, S M, Gaye, A, Dedoussis, G, Farmaki, A-E, Burton, P, Talmud, P J, Gambaro, G, Spector, T D, Smith, G D, Durbin, R, Richards, J B, Humphries, S E, Zeggini, E, Soranzo, N 2014, ' A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans ', Nature Communications, vol. 5, 4871 . https://doi.org/10.1038/ncomms5871
Timpson, N J, Walter, K, Min, J L, Tachmazidou, I, Malerba, G, Shin, S-Y, Chen, L, Futema, M, Southam, L, Iotchkova, V, Cocca, M, Huang, J, Memari, Y, McCarthy, S, Danecek, P, Muddyman, D, Mangino, M, Menni, C, Perry, J R B, Ring, S M, Gaye, A, Dedoussis, G, Farmaki, A-E, Burton, P, Talmud, P J, Gambaro, G, Spector, T D, Smith, G D, Durbin, R, Richards, J B, Humphries, S E, Zeggini, E, Soranzo, N 2014, ' A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans ', Nature Communications, vol. 5, 4871 . https://doi.org/10.1038/ncomms5871
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239f3f327a3d8bed252dfd05c2a94d0b
Autor:
Yuanping Du, Nitin Udpa, Mehila Zibenigus, Siqi Liu, Ye Yin, Roger Hainsworth, Kelly A. Frazer, Dan Zhou, Chen Huang, Tsering Stobdan, Victoria E. Claydon, Jin Xue, Guangwu Guo, Lixia Guo, Roy Ronen, Yingrui Li, Vineet Bafna, Yu Wang, Gabriel G. Haddad, Jorge L. Gamboa, Dandan Cao, Guta Zenebe, Junbin Liang, Xin Jin, Otto Appenzeller, Rui Cao, Wenlong Jia
Publikováno v:
Genome biology, vol 15, iss 2
Genome Biology
Genome Biology
Background Although it has long been proposed that genetic factors contribute to adaptation to high altitude, such factors remain largely unverified. Recent advances in high-throughput sequencing have made it feasible to analyze genome-wide patterns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90a4788ded5c7295ab25fd73eccbe42
https://escholarship.org/uc/item/7qh392qr
https://escholarship.org/uc/item/7qh392qr
Autor:
Dana Vuzman, H. Eka D. Suchiman, Qibin Li, Alexandros Kanterakis, Vyacheslav Koval, Ning Li, Heorhiy Byelas, Steven J. Pitts, Manfred Kayser, Alexander Schönhuth, Elisabeth M. van Leeuwen, P. Eline Slagboom, Jessica van Setten, Lennart C. Karssen, Aaron Isaacs, Patrick Deelen, Cisca Wijmenga, Sara L. Pulit, Jan H. Veldink, David R. Cox, Purnima Sundar, Androniki Menelaou, Mathijs Kattenberg, Gonneke Willemsen, Shamil R. Sunyaev, Eric-Wubbo Lameijer, André G. Uitterlinden, Mark Stoneking, Marian Beekman, Najaf Amin, Johan T. den Dunnen, Pier Francesco Palamara, Martijn Vermaat, Barbera D. C. van Schaik, Abdel Abdellaoui, Sujie Cao, Hailiang Mei, Robert E. Handsaker, Kai Ye, Hongzhi Cao, Paul I.W. de Bakker, Mannis van Oven, Jun Wang, Paz Polak, Fernando Rivadeneira, Gert-Jan B. van Ommen, Anton J. M. de Craen, Steven A. McCarroll, Ben A. Oostra, Victor Guryev, Jayne Y. Hehir-Kwa, K. Joeri van der Velde, Peter de Knijff, Yuanping Du, Carolina Medina-Gomez, David van Enckevort, Shobha Potluri, Isaac J. Nijman, Martijn Dijkstra, Mathieu Platteel, Cornelia M. van Duijn, Leonard H. van den Berg, Jeroen F. J. Laros, Wigard P. Kloosterman, Pieter B. Neerincx, Yingrui Li, Laurent C. Francioli, Itsik Pe'er, Ruoyan Chen, Mingkun Li, Clara C. Elbers, Jasper A. Bovenberg, Karol Estrada, Morris A. Swertz, Jan Bot, Fereydoun Hormozdiari, Freerk van Dijk, Dorret I. Boomsma, Ivo Renkens, Mashaal Sohail, Tobias Marschall, Matthijs Moed, Albert Hofman, Jouke-Jan Hottenga
Publikováno v:
Nature Genetics, 46(8), 818-825. Nature Publishing Group
Nature Genetics, 46, 8, pp. 818-25
Nature Genetics, 46(8), 818-825
Francioli, L C, Menelaou, A, Pulit, S L, Dijk, F, Palamara, P F, Elbers, C C, Neerincx, P B T, Ye, K, Guryev, V, Kloosterman, W P, Deelen, P, Abdellaoui, A, van Leeuwen, E, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Karssen, L C, Kanterakis, A, Amin, N, Lameijer, E W, Kattenberg, V M, Dijkstra, M, Byelas, H, van Setten, J, van Schaik, B D C, Bot, J, Nijman, I J, Renkens, I, Marschall, T, Schönhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, van Enckevort, D, Mei, H, Koval, V, Moed, M H, van der Velde, K J, Rivadeneira, F, Estrada, K, Medina-Gomez, C, Isaacs, A, McCarroll, S A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B A, Uitterlinden, A G, Willemsen, G, Platteel, M, Veldink, J H, Van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Sunyaev, S R, den Dunnen, J T, Stoneking, M, de Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A, Pe'er, I, Slagboom, P E, van Duijn, C M, Boomsma, D I, van Ommen, G J B, Bakker, P I W, Swertz, M & Wijmenga, C 2014, ' Whole-genome sequence variation population structure and demographic history of the Dutch population ', Nature Genetics, vol. 46, no. 8, pp. 818-825 . https://doi.org/10.1038/ng.3021
Nature Genetics
Nature genetics, 46(8), 818-825. Nature Publishing Group
Nature Genetics, 46, 818-25
Nature Genetics, 46, 8, pp. 818-25
Nature Genetics, 46(8), 818-825
Francioli, L C, Menelaou, A, Pulit, S L, Dijk, F, Palamara, P F, Elbers, C C, Neerincx, P B T, Ye, K, Guryev, V, Kloosterman, W P, Deelen, P, Abdellaoui, A, van Leeuwen, E, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Karssen, L C, Kanterakis, A, Amin, N, Lameijer, E W, Kattenberg, V M, Dijkstra, M, Byelas, H, van Setten, J, van Schaik, B D C, Bot, J, Nijman, I J, Renkens, I, Marschall, T, Schönhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, van Enckevort, D, Mei, H, Koval, V, Moed, M H, van der Velde, K J, Rivadeneira, F, Estrada, K, Medina-Gomez, C, Isaacs, A, McCarroll, S A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B A, Uitterlinden, A G, Willemsen, G, Platteel, M, Veldink, J H, Van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Sunyaev, S R, den Dunnen, J T, Stoneking, M, de Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A, Pe'er, I, Slagboom, P E, van Duijn, C M, Boomsma, D I, van Ommen, G J B, Bakker, P I W, Swertz, M & Wijmenga, C 2014, ' Whole-genome sequence variation population structure and demographic history of the Dutch population ', Nature Genetics, vol. 46, no. 8, pp. 818-825 . https://doi.org/10.1038/ng.3021
Nature Genetics
Nature genetics, 46(8), 818-825. Nature Publishing Group
Nature Genetics, 46, 818-25
Contains fulltext : 137213.pdf (Publisher’s version ) (Closed access) Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be studied. Here we des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::756a91ab4f4c919b613b39f45d560ebe
https://doi.org/10.1038/ng.3021
https://doi.org/10.1038/ng.3021