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Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Autor: Delaneau O., Marchini J., McVeanh G.A., Donnelly P., Lunter G., Marchini J.L., Myers, S., Gupta-Hinch, A., Iqbal, Z., Mathieson I., Rimmer, A., Xifara, D.K., Kerasidou, A., Churchhouse, C., Altshuler, D.M., Gabriel, S.B., Lander, E.S., Gupta, N., Daly, M.J., DePristo, M.A., Banks, E., Bhatia G., Carneiro, M.O., Del Angel G., Genovese G., Handsaker, R.E., Hartl, C., McCarroll, S.A., Nemesh J.C., Poplin, R.E., Schaffner, S.F., Shakir, K., Sabeti P.C., Grossman, S.R., Tabrizi, S., Tariyal, R., Li H., Reich, D., Durbin, R.M., Hurles, M.E., Balasubramaniam, S., Burton J., Danecek P., Keane, T.M., Kolb-Kokocinski, A., McCarthy, S., Stalker J., Quail, M., Ayub Q., Chen, Y., Coffey, A.J., Colonna V., Huang, N., Jostins L., Scally, A., Walter, K., Xue, Y., Zhang, Y., Blackburne, B., Lindsay, S.J., Ning, Z., Frankish, A., Harrow J., Chris, T.-S., Abecasis G.R., Kang H.M., Anderson P., Blackwell, T., Busonero F., Fuchsberger, C., Jun G., Maschio, A., Porcu, E., Sidore, C., Tan, A., Trost, M.K., Bentley, D.R., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Bauer, M., Cheetham, R.K., Cox, T., Eberle, M., Murray L., Shaw, R., Chakravarti, A., Clark, A.G., Keinan, A., Rodriguez-Flores J.L., De LaVega F.M., Degenhardt J., Eichler, E.E., Flicek P., Clarke L., Leinonen, R., Smith, R.E., Zheng-Bradley X., Beal, K., Cunningham F., Herrero J., McLaren W.M., Ritchie G.R.S., Barker J., Kelman G., Kulesha, E., Radhakrishnan, R., Roa, A., Smirnov, D., Streeter I., Toneva I., Gibbs, R.A., Dinh H., Kovar, C., Lee, S., Lewis L., Muzny, D., Reid J., Wang, M., Yu F., Bainbridge, M., Challis, D., Evani, U.S., Lu J., Nagaswamy, U., Sabo, A., Wang, Y., Yu J., Fowler G., Hale W., Kalra, D., Green, E.D., Knoppers, B.M., Korbel J.O., Rausch, T., Sttz, A.M., Lee, C., Griffin L., Hsieh, C.-H., Mills, R.E., Von Grotthuss, M., Zhang, C., Shi X., Lehrach H., Sudbrak, R., Amstislavskiy V.S., Lienhard, M., Mertes F., Sultan, M., Timmermann, B., Yaspo, M.L., Herwig, S.R., Mardis, E.R., Wilson, R.K., Fulton L., Fulton, R., Weinstock G.M., Chinwalla, A., Ding L., Dooling, D., Koboldt, D.C., McLellan, M.D., Wallis J.W., Wendl, M.C., Zhang Q., Marth G.T., Garrison, E.P., Kural, D., Lee W.-P., Leong W.F., Ward, A.N., Wu J., Zhang, M., Nickerson, D.A., Alkan, C., Hormozdiari F., Ko, A., Sudmant P.H., Schmidt J.P., Davies, C.J., Gollub J., Webster, T., Wong, B., Zhan, Y., Sherry, S.T., Xiao, C., Church, D., Ananiev V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Cohen, R., Cook, C., Garner J., Hefferon, T., Kimelman, M., Liu, C., Lopez J., Meric P., Ostapchuk, Y., Phan L., Ponomarov, S., Schneider V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang H., Wang J., Fang X., Guo X., Jian, M., Jiang H., Jin X., Li G., Li J., Li, Y., Liu X., Lu, Y., Ma X., Tai, S., Tang, M., Wang, B., Wang G., Wu H., Wu, R., Yin, Y., Zhang W., Zhao J., Zhao, M., Zheng X., Lachlan H., Fang L., Li Q., Li, Z., Lin H., Liu, B., Luo, R., Shao H., Xie, Y., Ye, C., Yu, C., Zheng H., Zhu H., Cai H., Cao H., Su, Y., Tian, Z., Yang H., Yang L., Zhu J., Cai, Z., Albrecht, M.W., Borodina, T.A., Auton, A., Yoon, S.C., Lihm J., Makarov V., Jin H., Kim W., Kim, K.C., Gottipati, S., Jones, D., Cooper, D.N., Ball, E.V., Stenson P.D., Barnes, B., Kahn, S., Ye, K., Batzer, M.A., Konkel, M.K., Walker J.A., MacArthur, D.G., Lek, M., Shriver, M.D., Bustamante, C.D., Gravel, S., Kenny, E.E., Kidd J.M., Lacroute P., Maples, B.K., Moreno-Estrada, A., Zakharia F., Henn, B., Sandoval, K., Byrnes J.K., Halperin, E., Baran, Y., Craig, D.W., Christoforides, A., Izatt, T., Kurdoglu, A.A., Sinari, S.A., Homer, N., Squire, K., Sebat J., Bafna V., Burchard, E.G., Hernandez, R.D., Gignoux, C.R., Haussler, D., Katzman, S.J., Kent W.J., Howie, B., Ruiz-Linares, A., Dermitzakis, E.T., Lappalainen, T., Devine, S.E., Maroo, A., Tallon L.J., Rosenfeld J.A., Michelson L.P., Angius, A., Cucca F., Sanna, S., Bigham, A., Jones, C., Reinier F., Lyons, R., Schlessinger, D., Awadalla P., Hodgkinson, A., Oleksyk, T.K., Martinez-Cruzado J.C., Fu, Y., Xiong, M., Jorde L., Witherspoon, D., Xing J., Browning, B.L., Hajirasouliha I., Chen, K., Albers, C.A., Gerstein, M.B., Abyzov, A., Chen J., Habegger L., Harmanci, A.O., Mu X.J., Sisu, C., Balasubramanian, S., Jin, M., Khurana, E., Clarke, D., Michaelson J.J., OSullivan, C., Barnes, K.C., Gharani, N., Toji L.H., Gerry, N., Kaye J.S., Kent, A., Mathias, R., Ossorio P.N., Parker, M., Rotimi, C.N., Royal, C.D., Tishkoff, S., Via, M., Bodmer W., Bedoya G., Yang G., You, C.J., Garcia-Montero, A., Orfao, A., Dutil J., Brooks L.D., Felsenfeld, A.L., McEwen J.E., Clemm, N.C., Guyer, M.S., Peterson J.L., Duncanson, A., Dunn, M., Peltonen L.

Publikováno v: Nature communications
Nature Communications
Nature communications 5 (2014). doi:10.1038/ncomms4934
info:cnr-pdr/source/autori:Delaneau, Olivier; Marchini, Jonathan; McVeanh, Gil A.; Donnelly, Peter; Lunter, Gerton; Marchini, Jonathan L.; Myers, Simon R.; Gupta-Hinch, Anjali; Iqbal, Zamin; Mathieson, Iain; Rimmer, Andrew J.; Xifara, Dionysia K.; Kerasidou, Angeliki; Churchhouse, Claire; Altshuler, David M.; Gabriel, Stacey Bolk; Lander, Eric S.; Gupta, Namrata; Daly, Mark J.; DePristo, Mark A.; Banks, Eric; Bhatia, Gaurav; Carneiro, Mauricio O.; Del Angel, Guillermo; Genovese, Giulio; Handsaker, Robert E.; Hartl, Chris L.; McCarroll, Steven A.; Nemesh, James C.; Poplin, Ryan E.; Schaffner, Stephen F.; Shakir, Khalid; Sabeti, Pardis C.; Grossman, Sharon R.; Tabrizi, Shervin; Tariyal, Ridhi; Li, Heng; Reich, David E.; Durbin, Richard M.; Hurles, Matthew E.; Balasubramaniam, Senduran; Burton, John S.; Danecek, Petr; Keane, Thomas M.; Kolb-Kokocinski, Anja; McCarthy, Shane E.; Stalker, James W.; Quail, Michael A.; Ayub, Qasim; Chen, Yuan; Coffey, Alison J.; Colonna, Vincenza; Huang, Ni; Jostins, Luke; Scally, Aylwyn; Walter, Klaudia K Ho; Xue, Yali; Zhang, Yujun; Blackburne, Benjamin P.; Lindsay, Sarah J.; Ning, Zemin; Frankish, Adam G.; Harrow, Jennifer L.; Chris, Tyler S.; Abeçasis, Gonçalo R.; Kang, Hyunmin; Anderson, Paul C B; Blackwell, Thomas W.; Busonero, Fabio; Fuchsberger, Christian; Jun, Goo; Maschio, Andrea; Porcu, Eleonora; Sidore, Carlo; Tan, Adrian; Trost, Mary Kate; Bentley, David R.; Grocock, Russell James; Humphray, Sean J.; James, Terena; Kingsbury, Zoya; Bauer, Markus J.; Cheetham, R. Keira; Cox, Tony V.; Eberle, Michael A.; Murray, Lisa J.; Shaw, Richard J.; Chakravarti, Aravinda H.; Clark, Andrew Godfrey B; Keinan, Alon; Rodríguez-Flores, Juan L.; De LaVega, Francisco M.; Degenhardt, Jeremiah D.; Eichler, Evan E.; Flicek, Paul; Clarke, Laura A.; Leinonen, Rasko; Smith, Richard E.; Zheng-Bradley, Xiangqun; Beal, Kathryn F.; Cunningham, Fiona; Herrero, Javier; McLaren, William M.; Ritchie, Graham R S; Barker, Jonathan Nn W N; Kelman, Gavin; Kulesha, Eugene; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitri S.; Streeter, Ian; Toneva, Iliana; Gibbs, Richard A L; Dinh, Huyen H.; Ková?, Christie L.; Lee, Sandy; Lewis, Lora R.; Muzny, Donna Marie; Reid, Jeffrey G.; Wang, Min; Yu, Fuli; Bainbridge, Matthew N.; Challis, Daniel E.; Evani, Uday S.; Lu, James; Nagaswamy, Uma; Sabo, Aniko M.; Wang, Yi; Yu, Jin; Fowler, Gerald R.; Hale, Walker; Kalra, Divya; Green, Eric D.; Knoppers, Bartha Maria; Korbel, Jan O.; Rausch, Tobias; Sttz, Adrian M.; Lee, Charles; Griffin, Lauren; Hsieh, Chihheng; Mills, Ryan E.; Von Grotthuss, Marcin; Zhang, Chengsheng; Shi, Xinghua; Lehrach, Hans R.; Sudbrak, Ralf; Amstislavskiy, Vyacheslav S.; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie Laure; Herwig, Sudbrak Ralf; Mardis, Elaine; Wilson, Richard K.; Fulton, Lucinda L.; Fulton, Robert S.; Weinstock, George M.; Chinwalla, Asif T.; Ding, Li; Dooling, David J.; Koboldt, Daniel C.; McLellan, Michael D.; Wallis, John W.; Wendl, Michael C.; Zhang, Qunyuan; Marth, Gábor T.; Garrison, Erik P.; Kural, Deniz; Lee, Wanping; Leong, Wenfung; Ward, Alistair N.; Wu, Jiantao; Zhang, Mengyao; Nickerson, Deborah A A.; Alkan, Can; Hormozdiari, Fereydoun; Ko, Arthur; Sudmant, Peter H.; Schmidt, Jeanette P.; Davies, Christopher J.; Gollub, Jeremy; Webster, Teresa A.; Wong, Brant; Zhan, Yiping; Sherry, Stephen T.; Xiao, Chunlin; Church, Deanna M.; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; Cohen, Robert F.; Cook, Charles; Garner, John R.; Hefferon, Timothy W.; Kimelman, Mikhail; Liu, Chunlei; Lopez, John R.; Meric, Peter A.; Ostapchuk, Yu L.; Phan, Lon; Ponomarov, Sergiy; Schneider, Valerie A.; Shekhtman, Eugene M.; Sirotkin, Karl M.; Slotta, Douglas J.; Zhang, Hua; Wang, Jun; Fang, Xiaodong; Guo, Xiaosen; Jian, Min; Jiang, Hui; Jin, Xin; Li, Guoqing; Li, Jingxiang; Li, Yingrui; Liu, Xiao; Lu, Yao; Ma, Xuedi; Tai, Shuaishuai; Tang, Meifang; Wang, Bo; Wang, Guangbiao; Wu, Honglong; Wu, Renhua; Yin, Ye; Zhang, Wenwei; Zhao, Jiao; Zhao, Meiru; Zheng, Xiaole; Lachlan, Hans; Fang, Lin; Li, Qibin; Li, Zhenyu; Lin, Haoxiang; Liu, Binghang; Luo, Ruibang; Shao, Haojing; Wang, Bingqiang; Xie, Yinlong; Ye, Chen; Yu, Chang; Zheng, Hancheng; Zhu, Hongmei; Cai, Hongyu; Cao, Hongzhi; Su, Yeyang; Tian, Zhongming; Yang, Huanming; Yang, Ling; Zhu, Jiayong; Cai, Zhiming; Wang, Jian; Albrecht, Marcus W.; Borodina, Tatiana A.; Auton, Adam; Yoon, Seungtaichris; Lihm, Jayon; Makarov, Vladimir; Jin, Hanjun; Kim, Wook; Kim, Kicheol; Gottipati, Srikanth; Jones, Danielle; Cooper, David N David N; Ball, Edward V.; Stenson, Peter D.; Barnes, Bret; Kahn, Scott D.; Ye, Kai; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Macarthur, Daniel G.; Lek, Monkol; Shriver, Mark D.; Bustamante, Carlos D.; Gravel, Simon Pierre; Kenny, Eimear E.; Kidd, Jeffrey M.; Lacroute, Phil; Maples, Brian K.; Moreno-Estrada, Andrés; Zakharia, Fouad; Henn, Brenna M.; Sandoval, Karla; Byrnes, Jake K.; Halperin, Eran; Baran, Yael; Craig, David W.; Christoforides, Alexis; Izatt, Tyler; Kurdoglu, Ahmet A.; Sinari, Shripad A.; Homer, Nils; Squire, Kevin; Sebat, Jonathan L.; Bafna, Vineet K.; Ye, Kenny; Burchard, Esteban González; Hernandez, Ryan D.; Gignoux, Christopher R.; Haussler, David H.; Katzman, Sol J.; Kent, William James; Howie, Bryan N.; Ruiz-Linarès, Andrés; Dermitzakis, Emmanouil T T.; Lappalainen, Tuuli; Devine, Scott E.; Liu, Xinyue; Maroo, Ankit; Tallon, Luke J.; Rosenfeld, Jeffrey A.; Michelson, Leslie P.; Angius, Andrea G.; Cucca, Francesco; Sanna, Serena; Bigham, Abigail W.; Jones, Chris G.; Reinier, Frédéric; Li, Yun; Lyons, Robert H.; Schlessinger, David; Awadalla, Philip; Hodgkinson, Alan; Oleksyk, Taras K.; Martínez-Cruzado, Juan Carlos; Fu, Yunxin; Liu, Xiaoming; Xiong, Momiao; Jorde, Lynn B.; Witherspoon, David J.; Xing, Jinchuan; Browning, Brian L.; Hajirasouliha, Iman; Chen, Ken; Albers, Cornelis A.; Gerstein, Mark B.; Abyzov, Alexej; Chen, Jieming; Fu, Yao; Habegger, Lukas; Harmanci, Arif Ozgun; Mu, Xinmengjasmine; Sisu, Cristina; Balasubramanian, Suganthi; Jin, Mike; Khurana, Ekta; Clarke, Declan; Michaelson, Jacob J.; OSullivan, Chris; Barnes, Kathleen Carole; Gharani, Neda; Toji, Lorraine H.; Gerry, Norman P.; Kaye, Jane S.; Kent, Alastair D.; Mathias, Rasika Ann; Ossorio, Pilar N.; Parker, Michael J.; Rotimi, Charles N.; Royal, Charmaine D M; Tishkoff, Sarah A.; Vía, Marc; Bodmer, Walter F.; Bedoya, Gabriel De Jesús; Yang, Gao; You, Chujia; García-Montero, Andrés Celestino; Orfao, Alberto; Dutil, Julie; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Clemm, Nicholas C.; Guyer, Mark S.; Peterson, Jane L.; Duncanson, Audrey; Dunn, Michael G.; Peltonen, Leena Johanna/titolo:Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel/doi:10.1038%2Fncomms4934/rivista:Nature communications/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:5

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide pol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e27cd0d1ed4de04db34bcfb769bb534
https://serval.unil.ch/resource/serval:BIB_FAB25C17CFF9.P001/REF.pdf

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