المؤلفون: Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.

المساهمون: HGSVC, Intelligent Systems, Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Damage and Repair in Cancer Development and Cancer Treatment (DARE)

المصدر: BMC Genomics
BMC Genomics, 21(1):95. BioMed Central Ltd.
BMC Genomics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Cancer Research, DOMAINS, lcsh:QH426-470, CFHR1, lcsh:Biotechnology, Population, Biology, Genome, Structural variation, Chromosome conformation capture, Deletion, 03 medical and health sciences, 0302 clinical medicine, Hi-C, lcsh:TP248.13-248.65, Cell Line, Tumor, Genetics, TAD fusion, Chromosomes, Human, Humans, 1000 Genomes Project, education, Gene, 030304 developmental biology, Sequence Deletion, 0303 health sciences, education.field_of_study, Sequence Inversion, Breakpoint, Inversion, TAD, Chromatin Assembly and Disassembly, Chromatin, GENOME, lcsh:Genetics, Enhancer Elements, Genetic, Genomic Structural Variation, Linear Models, 030217 neurology & neurosurgery, Biotechnology, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ee8032c2bc27c0e2c69cac3b14239b
http://europepmc.org/articles/PMC6990566

المؤلفون: Zheng-Bradley, X., Streeter, I., Fairley, S., Richardson, D., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.

المصدر: GigaScience

مصطلحات موضوعية: 0301 basic medicine, European Nucleotide Archive, Computer science, read mapping, Health Informatics, Computational biology, Data Note, Genome, 03 medical and health sciences, Contig Mapping, 0302 clinical medicine, Human Genome Project, Humans, 1000 Genomes Project, reference genome, Sequence (medicine), Information retrieval, Contig, Whole Genome Sequencing, alignment, Reference Standards, Short read, Computer Science Applications, 030104 developmental biology, 030220 oncology & carcinogenesis, sequence reads, GRCh38, Sequence Alignment, Project analysis, Algorithms, Reference genome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b188c05d96cc652e2ea9b6b8472d2c
https://pubmed.ncbi.nlm.nih.gov/28531267

المؤلفون: Lowy-Gallego, E., Fairley, S., Zheng-Bradley, X., Ruffier, M., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.

المصدر: Wellcome Open Research (open access publishing platform)
Wellcome Open Research

مصطلحات موضوعية: single nucleotide variation, 0303 health sciences, Computer science, variant calling, population genetics, Medicine (miscellaneous), Genomics, Computational biology, Articles, Data Note, General Biochemistry, Genetics and Molecular Biology, Set (abstract data type), Data set, variant discovery, 03 medical and health sciences, Resource (project management), 0302 clinical medicine, Benchmark (computing), 1000 Genomes Project, Indel, 030217 neurology & neurosurgery, 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cec2bec1a67a81572fe5589c27a1ae0
https://doi.org/10.12688/wellcomeopenres.15126.1

المؤلفون: Colonna, V, Ayub, Q, Chen, Y, Pagani, L, Luisi, P, Pybus, M, Garrison, E, Xue, Y, Tyler-Smith, C, Abecasis, GR, Auton, A, Brooks, LD, Depristo, MA, Durbin, RM, Handsaker, RE, Kang, HM, Marth, GT, McVean, G, Altshuler, DM, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, ML, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S

المساهمون: Molecular Dynamics, Biomimetics, Urban and Regional Studies Institute, Nanomedicine & Drug Targeting, Artificial Intelligence, Micromechanics, Molecular Cell Biology, Van Swinderen Institute for Particle Physics and G, Archaeology of Northwestern Europe, Polymer Chemistry and Bioengineering, Christianity and the History of Ideas, Scientific Visualization and Computer Graphics, Chemical Technology, Macromolecular Chemistry & New Polymeric Materials, Bernoulli Institute, Surfaces and Thin Films, Hemelrijk group, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Falcao Salles lab, Synthetic Organic Chemistry, Psychometrics and Statistics, Bio-inspired systems and circuits, Advanced Production Engineering, Drug Design, The 1000 Genomes Project Consortium, Faculteit Medische Wetenschappen/UMCG, Wellcome Trust, Consiglio Nazionale delle Ricerche, EMBO, 1000 Genomes Project Consortium

المصدر: Genome Biology, 15(6):R88. BMC
Recercat. Dipósit de la Recerca de Catalunya
instname
Genome Biology
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
GenomeBiology.com (Lond., Print) 15 (2014). doi:10.1186/gb-2014-15-6-r88
info:cnr-pdr/source/autori:Colonna, Vincenza; Ayub, Qasim; Chen, Yuan; Pagani, Luca; Luisi, Pierre; Pybus, Marc; Garrison, Erik; Xue, Yali; Tyler-Smith, Chris/titolo:Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences/doi:10.1186%2Fgb-2014-15-6-r88/rivista:GenomeBiology.com (Lond., Print)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:15
Genome Biology : Biology for the Post-Genomic Era
Digital.CSIC. Repositorio Institucional del CSIC
Genome biology

مصطلحات موضوعية: Historia y Arqueología, lactase persistence, POSITIVE SELECTION, BALANCING SELECTION, SOFT SWEEP, Biología, standing variation, Population, Biology, Balancing selection, Genome, Polymorphism, Single Nucleotide, Genètica de poblacions humanes, Ciencias Biológicas, purl.org/becyt/ford/1 [https], selective sweep, functional annotation cluster, Genética y Herencia, HUMANIDADES, Genetic drift, Gene Frequency, INDEL Mutation, Humans, Selection, Genetic, education, purl.org/becyt/ford/1.6 [https], Selection (genetic algorithm), education.field_of_study, purl.org/becyt/ford/6 [https], Genome, Human, Research, Genetic Drift, Levenshtein distance, Selecció natural, Sequence Analysis, DNA, Human genetics, Otras Historia y Arqueología, Evolutionary biology, Human genome, purl.org/becyt/ford/6.1 [https], Selective sweep, Genètica humana -- Variació, CIENCIAS NATURALES Y EXACTAS

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6661b65b2e9464a1bffd586a856b1386
https://research.rug.nl/en/publications/0d833a56-8eb8-4c58-a06e-7daade1712d5

المؤلفون: 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.

المساهمون: 1000 Genomes Project Consortium

المصدر: 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

مصطلحات موضوعية: haplotype, genetic association, genotype, General Physics and Astronomy, Genome-wide association study, genetic analysis, gene sequence, Biology, gene frequency, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, polymorphism, Gene Frequency, single nucleotide polymorphism, Humans, chromosome, human, 1000 Genomes Project, indel mutation, genome, Alleles, Genetic association, Genetics, Whole genome sequencing, Multidisciplinary, accuracy, Genome, Human, Haplotype, allele, article, reference database, General Chemistry, Microarray Analysis, chromosome 20, Haplotypes, Human genome, microarray analysis, Imputation (genetics), Algorithms, SNP array, Genome-Wide Association Study

وصف الملف: application/pdf

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

المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, 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, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL

المساهمون: 1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, Lander, Eric S.

المصدر: Nature
Nature, Vol. 491, No 7422 (2012) pp. 56-65
Dipòsit Digital de la UB
Universidad de Barcelona
Nature: international weekly journal of science
Recercat. Dipósit de la Recerca de Catalunya
instname
Genome Biology

مصطلحات موضوعية: Natural selection, LOCI, Genome-wide association study, Evolutionary biology, Continental Population Groups/genetics, Human genetic variation, VARIANTS, Genoma humà, Binding Sites/genetics, 0302 clinical medicine, RARE, Sequence Deletion/genetics, WIDE ASSOCIATION, ddc:576.5, Copy-number variation, MUTATION, Exome sequencing, transcription factor, Conserved Sequence, Human evolution, Sequence Deletion, Genetics, RISK, 0303 health sciences, Multidisciplinary, Continental Population Groups, 1000 Genomes Project Consortium, Genetic analysis, Genomics, Polymorphism, Single Nucleotide/genetics, Research Highlight, 3. Good health, Algorithm, Multidisciplinary Sciences, Genetic Variation/genetics, Map, Science & Technology - Other Topics, Conserved Sequence/genetics, Integrated approach, General Science & Technology, Genetics, Medical, Haplotypes/genetics, Biology, Polymorphism, Single Nucleotide, Evolution, Molecular, 03 medical and health sciences, Genetic variation, Humans, Transcription Factors/metabolism, POPULATION-STRUCTURE, 1000 Genomes Project, Polymorphism, Nucleotide Motifs, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, Science & Technology, Binding Sites, Human genome, Genome, Human, Racial Groups, Genetic Variation, Genetics, Population, Haplotypes, Genome, Human/genetics, untranslated RNA, 030217 neurology & neurosurgery, Transcription Factors, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ca5122d8c3abb786fb2df1c7f65284
https://serval.unil.ch/resource/serval:BIB_5BC1B19DB11D.P001/REF.pdf

المؤلفون: Clarke, L., Zheng-Bradley, X., Smith, R., Kulesha, E., Xiao, C., Toneva, I., Vaughan, B., Preuss, D., Leinonen, R., Shumway, M., Sherry, S., Flicek, P., Donnelly, P, Albers, C.A.

المصدر: Nature Methods, 9, 5, pp. 459-62
Nature Methods, 9, 459-62

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f3fcdcf36bf70ba66369c19309e59f92
https://hdl.handle.net/2066/109706

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