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DISSECTING THE CONTRIBUTION OF COMMON VARIANTS TO RISK OF RARE NEURODEVELOPMENTAL CONDITIONS Huang, Qinqin; Wigdor, Emilie; Campbell, Patrick; Malawsky, Daniel; Samocha, Kaitlin; Chundru, Kartik; Danecek, Petr; Radford, Elizabeth; Barrett, Jeffrey; Wright, Caroline; Firth, Helen; Warrier, Varun; Young, Alexander; Hurles, Matt; Martin, Hilary 分享 收藏
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C. 分享 收藏
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland 英国和爱尔兰罕见儿科疾病的基因组诊断 Wright, Caroline F.; Campbell, Patrick; Eberhardt, Ruth Y.; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J.; Chundru, V. Kartik; Lindsay, Sarah J.; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E.; Middleton, Anna; Foreman, Julia; Hobson, Rachel J.; Parker, Michael J.; Martin, Hilary C.; FitzPatrick, David R.; Hurles, Matthew E.; Firth, Helen V. 分享 收藏
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Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells Rouhani, Foad J.; Zou, Xueqing; Danecek, Petr; Amarante, Tauanne Dias; Koh, Gene; Wu, Qianxin; Memari, Yasin; Durbin, Richard; Martincorena, Inigo; Bassett, Andrew R.; Gaffney, Daniel; Nik-Zainal, Serena 分享 收藏
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders Gardner, Eugene J.; Sifrim, Alejandro; Lindsay, Sarah J.; Prigmore, Elena; Rajan, Diana; Danecek, Petr; Gallone, Giuseppe; Eberhardt, Ruth Y.; Martin, Hilary C.; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen, V; Hurles, Matthew E. 分享 收藏
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms MEF2C上游的非编码区变异通过三种不同的功能丧失机制导致严重的发育障碍 Wright, Caroline F.; Quaife, Nicholas M.; Ramos-Hernandez, Laura; Danecek, Petr; Ferla, Matteo P.; Samocha, Kaitlin E.; Kaplanis, Joanna; Gardner, Eugene J.; Eberhardt, Ruth Y.; Chao, Katherine R.; Karczewski, Konrad J.; Morales, Joannella; Gallone, Giuseppe; Balasubramanian, Meena; Banka, Siddharth; Gompertz, Lianne; Kerr, Bronwyn; Kirby, Amelia; Lynch, Sally A.; Morton, Jenny E., V; Pinz, Hailey; Sansbury, Francis H.; Stewart, Helen; Zuccarelli, Britton D.; Cook, Stuart A.; Taylor, Jenny C.; Juusola, Jane; Retterer, Kyle; Firth, Helen, V; Hurles, Matthew E.; Lara-Pezzi, Enrique; Barton, Paul J. R.; Whiffin, Nicola 分享 收藏
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Twelve years of SAMtools and BCFtools 12年的SAMtools和BCFtools Danecek, Petr; Bonfield, James K.; Liddle, Jennifer; Marshall, John; Ohan, Valeriu; Pollard, Martin O.; Whitwham, Andrew; Keane, Thomas; McCarthy, Shane A.; Davies, Robert M.; Li, Heng 分享 收藏
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes McCarthy, Davis J.; Rostom, Raghd; Huang, Yuanhua; Kunz, Daniel J.; Danecek, Petr; Bonder, Marc Jan; Hagai, Tzachi; Lyu, Ruqian; Wang, Wenyi; Gaffney, Daniel J.; Simons, Benjamin D.; Stegle, Oliver; Teichmann, Sarah A. 分享 收藏
Contribution of retrotransposition to developmental disorders Gardner, Eugene J.; Prigmore, Elena; Gallone, Giuseppe; Danecek, Petr; Samocha, Kaitlin E.; Handsaker, Juliet; Gerety, Sebastian S.; Ironfield, Holly; Short, Patrick J.; Sifrim, Alejandro; Singh, Tarjinder; Chandler, Kate E.; Clement, Emma; Lachlan, Katherine L.; Prescott, Katrina; Rosser, Elisabeth; FitzPatrick, David R.; Firth, Helen, V; Hurles, Matthew E. 分享 收藏
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume TP53的低频变异对头围和颅内容积有很大影响 Haworth, Simon; Shapland, Chin Yang; Hayward, Caroline; Prins, Bram P.; Felix, Janine F.; Medina-Gomez, Carolina; Rivadeneira, Fernando; Wang, Carol; Ahluwalia, Tarunveer S.; Vrijheid, Martine; Guxens, Monica; Sunyer, Jordi; Tachmazidou, Ioanna; Walter, Klaudia; Iotchkova, Valentina; Jackson, Andrew; Cleal, Louise; Huffmann, Jennifer; Min, Josine L.; Sass, Laerke; Timmers, Paul R. H. J.; Al Turki, Saeed; Anderson, Carl A.; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Bala, Senduran; Barrett, Jeffrey C.; Barroso, Ines; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick F.; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Charlton, Ruth; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebahattin; Clapham, Peter; Clement, Gail; Coates, Guy; Cocca, Massimiliano; Collier, David A.; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Danecek, Petr; Day, Ian N. M.; Day-Williams, Aaron; Dominiczak, Anna; Down, Thomas; Du, Yuanping; Dunham, Ian; Durbin, Richard; Edkins, Sarah; Ekong, Rosemary; Ellis, Peter; Evans, David M.; Farooqi, I. Sadaf; Fitzpatrick, David R.; Flicek, Paul; Floyd, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Gaunt, Tom R.; Geihs, Matthias; Geschwind, Daniel; Greenwood, Celia M. T.; Griffin, Heather; Grozeva, Detelina; Guo, Xiaosen; Guo, Xueqin; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey E.; Holmans, Peter; Howie, Bryan; Huang, Jie; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hurles, Matthew E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Joyce, Chris; Karczewski, Konrad J.; Kaye, Jane; Keane, Thomas; Kemp, John P.; Kennedy, Karen; Kent, Alastair; Keogh, Julia; Khawaja, Farrah; van Kogelenberg, Margriet; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Li, Rui; Li, Yingrui; Liang, Jieqin; Lin, Hong; Liu, Ryan; Lonnqvist, Jouko; Lopes, Luis R.; Lopes, Margarida; MacArthur, Daniel G.; Mangino, Massimo; Marchini, Jonathan; Marenne, Gaelle; Maslen, John; Mathieson, Iain; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew M.; McKechanie, Andrew G.; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Migone, Nicola; Mitchison, Hannah M.; Moayyeri, Alireza; Morris, Andrew; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael C.; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Payne, Stewart J.; Perry, John R. B.; Pietilainen, Olli; Plagnol, Vincent; Pollitt, Rebecca C.; Porteous, David J.; Povey, Sue; Quail, Michael A.; Quaye, Lydia; Raymond, F. Lucy; Rehnstrom, Karola; Richards, J. Brent; Ridout, Cheryl K.; Ring, Susan; Ritchie, Graham R. S.; Roberts, Nicola; Robinson, Rachel L.; Savage, David B.; Scambler, Peter; Schiffels, Stephan; Schmidts, Miriam; Schoenmakers, Nadia; Scott, Richard H.; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shaw, Adam; Shihab, Hashem A.; Shin, So-Youn; Skuse, David; Small, Kerrin S.; Smee, Carol; Smith, Blair H.; Soranzo, Nicole; Southam, Lorraine; Spasic-Boskovic, Olivera; Spector, Timothy D.; St Clair, David; Stalker, Jim; Stevens, Elizabeth; Sun, Jianping; Surdulescu, Gabriela; Suvisaari, Jaana; Syrris, Petros; Taylor, Rohan; Tian, Jing; Tobin, Martin D.; Valdes, Ana M.; Vandersteen, Anthony M.; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walters, James T. R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Eleanor; Whyte, Tamieka; Williams, Hywel J.; Williamson, Kathleen A.; Wilson, Crispian; Wilson, Scott G.; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zhang, Feng; Zhang, Pingbo; Zheng, Hou-Feng; Smith, George Davey; Fisher, Simon E.; Wilson, James F.; Cole, Tim J.; Fernandez-Orth, Dietmar; Bonnelykke, Klaus; Bisgaard, Hans; Pennell, Craig E.; Jaddoe, Vincent W. V.; Dedoussis, George; Timpson, Nicholas; Zeggini, Eleftheria; Vitart, Veronique; St Pourcain, Beate 分享 收藏
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci Lilue, Jingtao; Doran, Anthony G.; Fiddes, Ian T.; Abrudan, Monica; Armstrong, Joel; Bennett, Ruth; Chow, William; Collins, Joanna; Collins, Stephan; Czechanski, Anne; Danecek, Petr; Diekhans, Mark; Dolle, Dirk-Dominik; Dunn, Matt; Durbin, Richard; Earl, Dent; Ferguson-Smith, Anne; Flicek, Paul; Flint, Jonathan; Frankish, Adam; Fu, Beiyuan; Gerstein, Mark; Gilbert, James; Goodstadt, Leo; Harrow, Jennifer; Howe, Kerstin; Ibarra-Soria, Ximena; Kolmogorov, Mikhail; Lelliott, Chris J.; Logan, Darren W.; Loveland, Jane; Mathews, Clayton E.; Mott, Richard; Muir, Paul; Nachtweide, Stefanie; Navarro, Fabio C. P.; Odom, Duncan T.; Park, Naomi; Pelan, Sarah; Pham, Son K.; Quail, Mike; Reinholdt, Laura; Romoth, Lars; Shirley, Lesley; Sisu, Cristina; Sjoberg-Herrera, Marcela; Stanke, Mario; Steward, Charles; Thomas, Mark; Threadgold, Glen; Thybert, David; Torrance, James; Wong, Kim; Wood, Jonathan; Yalcin, Binnaz; Yang, Fengtang; Adams, David J.; Paten, Benedict; Keane, Thomas M. 分享 收藏
Bible Says Israelites Didn't Exterminate Sidonians Response Haber, Marc; Doumet-Serhal, Claude; Scheib, Christiana; Xue, Yali; Danecek, Petr; Mezzavilla, Massimo; Youhanna, Sonia; Martiniano, Rui; Prado-Martinez, Javier; Szpak, Michal; Matisoo-Smith, Elizabeth; Schutkowski, Holger; Mikulski, Richard; Zalloua, Pierre; Kivisild, Toomas; Tyler-Smith, Chris 分享 收藏
Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences 古代迦南人和当今黎巴嫩基因组序列在黎凡特历史的最后五千年中的连续性和混合性 Haber, Marc; Doumet-Serhal, Claude; Scheib, Christiana; Xue, Yali; Danecek, Petr; Mezzavilla, Massimo; Youhanna, Sonia; Martiniano, Rui; Prado-Martinez, Javier; Szpak, Michal; Matisoo-Smith, Elizabeth; Schutkowski, Holger; Mikulski, Richard; Zalloua, Pierre; Kivisild, Toomas; Tyler-Smith, Chris 分享 收藏
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits 全基因组测序与插补相结合，发现了人体测量性状的遗传信号 Tachmazidou, Ioanna; Suveges, Daniel; Min, Josine L.; Ritchie, Graham R. S.; Steinberg, Julia; Walter, Klaudia; Iotchkova, Valentina; Schwartzentruber, Jeremy; Huang, Jie; Memari, Yasin; McCarthy, Shane; Crawford, Andrew A.; Bombieri, Cristina; Cocca, Massimiliano; Farmaki, Aliki-Eleni; Gaunt, Tom R.; Jousilahti, Pekka; Kooijman, Marjolein N.; Lehne, Benjamin; Malerba, Giovanni; Mannisto, Satu; Matchan, Angela; Medina-Gomez, Carolina; Metrustry, Sarah J.; Nag, Abhishek; Ntalla, Ioanna; Paternoster, Lavinia; Rayner, Nigel W.; Sala, Cinzia; Scott, William R.; Shihab, Hashem A.; Southam, Lorraine; St Pourcain, Beate; Traglia, Michela; Trajanoska, Katerina; Zaza, Gialuigi; Zhang, Weihua; Artigas, Maria S.; Bansal, Narinder; Benn, Marianne; Chen, Zhongsheng; Danecek, Petr; Lin, Wei-Yu; Locke, Adam; Luan, Jian'an; Manning, Alisa K.; Mulas, Antonella; Sidore, Carlo; Tybjaerg-Hansen, Anne; Varbo, Anette; Zoledziewska, Magdalena; Finan, Chris; Hatzikotoulas, Konstantinos; Hendricks, Audrey E.; Kemp, John P.; Moayyeri, Alireza; Panoutsopoulou, Kalliope; Szpak, Michal; Wilson, Scott G.; Boehnke, Michael; Cucca, Francesco; Di Angelantonio, Emanuele; Langenberg, Claudia; Lindgren, Cecilia; McCarthy, Mark I.; Morris, Andrew P.; Nordestgaard, Borge G.; Scott, Robert A.; Tobin, Martin D.; Wareham, Nicholas J.; Burton, Paul; Chambers, John C.; Smith, George Davey; Dedoussis, George; Felix, Janine F.; Franco, Oscar H.; Gambaro, Giovanni; Gasparini, Paolo; Hammond, Christopher J.; Hofman, Albert; Jaddoe, Vincent W. V.; Kleber, Marcus; Kooner, Jaspal S.; Perola, Markus; Relton, Caroline; Ring, Susan M.; Rivadeneira, Fernando; Salomaa, Veikko; Spector, Timothy D.; Stegle, Oliver; Toniolo, Daniela; Uitterlinden, Andre G.; Barroso, Ines; Greenwood, Celia M. T.; Perry, John R. B.; Walker, Brian R.; Butterworth, Adam S.; Xue, Yali; Durbin, Richard; Small, Kerrin S.; Soranzo, Nicole; Timpson, Nicholas J.; Zeggini, Eleftheria 分享 收藏
Reference-based phasing using the Haplotype Reference Consortium panel 使用单倍型参考联盟小组进行基于参考的分阶段 Loh, Po-Ru; Danecek, Petr; Palamara, Pier Francesco; Fuchsberger, Christian; Reshef, Yakir A.; Finucane, Hilary K.; Schoenherr, Sebastian; Forer, Lukas; McCarthy, Shane; Abecasis, Goncalo R.; Durbin, Richard; Price, Alkes L. 分享 收藏
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Huang, Jie; Howie, Bryan; McCarthy, Shane; Memari, Yasin; Walter, Klaudia; Min, Josine L.; Danecek, Petr; Malerba, Giovanni; Trabetti, Elisabetta; Zheng, Hou-Feng; Gambaro, Giovanni; Richards, J. Brent; Durbin, Richard; Timpson, Nicholas J.; Marchini, Jonathan; Soranzo, Nicole 分享 收藏
Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians 利用埃塞俄比亚人和埃及人的225人类基因组序列追踪现代人类走出非洲的途径 Pagani, Luca; Schiffels, Stephan; Gurdasani, Deepti; Danecek, Petr; Scally, Aylwyn; Chen, Yuan; Xue, Yali; Haber, Marc; Ekong, Rosemary; Oljira, Tamiru; Mekonnen, Ephrem; Luiselli, Donata; Bradman, Neil; Bekele, Endashaw; Zalloua, Pierre; Durbin, Richard; Kivisild, Toomas; Tyler-Smith, Chris 分享 收藏
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