المؤلفون: J. Fred Hess, Rebecca C.J. Twells, Benedicte A. Lie, Philippa Carr, Michael S. Phillips, Riitta Veijola, Matthew Gilbey, Sarah Nutland, Joanna M. M. Howson, John A. Todd, Yusuke Nakagawa, Gillian C.L. Johnson, Edward Gregory, Jennifer Masters, Amanda Kingsnorth, Heather J. Cordell, Matthew Bright, Iain A. Eaves, Charles A. Mein, Michael L. Metzker, William Y.S. Wang, Helen E. Rance, David Clayton, Hywel Snook

المصدر: Genome Research. 13:845-855

مصطلحات موضوعية: Genetic Markers, Linkage disequilibrium, Genotype, 5' Flanking Region, 5' flanking region, Population, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 3' Flanking Region, Linkage Disequilibrium, Nuclear Family, Gene Frequency, Genetics, Humans, Letters, education, Alleles, LDL-Receptor Related Proteins, Genetics (clinical), Recombination, Genetic, education.field_of_study, Chromosomes, Human, Pair 11, Haplotype, Intron, Chromosome Mapping, Introns, Diabetes Mellitus, Type 1, Genetics, Population, Low Density Lipoprotein Receptor-Related Protein-5, Haplotypes, Receptors, LDL, Recombination, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146d11c7bd960a46f8160ee111cf164cTest
https://doi.org/10.1101/gr.563703Test

المؤلفون: Neil Walker, Constantin Ionescu-Tirgoviste, Kathleen M Gillespie, Cristian Guja, David A. Savage, Jane Rogers, Eva Tuomilehto-Wolf, Christopher Patterson, Dag E. Undlien, Laurence B. Peterson, H Ueda, Michael L. Metzker, Francesco Cucca, Jaakko Tuomilehto, C Bordin, R Nithiyananthan, Hywel Snook, Amit Allahabadia, Simon G. Gregory, Helen E. Rance, Jayne A. Franklyn, John A. Todd, A C Lam, F Payne, John S. Hulme, Laura Esposito, Polly J. Bingley, Anne Smith, Giselle Chamberlain, Dennis Carson, Gough Scl., Kjersti S. Rønningen, Deborah J. Smyth, G Di Genova, Barry C. Healy, Alexander P. Maxwell, Joanne M. Heward, Sarah Nutland, Howson Jmm., Christopher E. Lowe, Twells Rcj., Hunter Kmd., Sarah Howlett, Heather J. Cordell, Ingrid Dahlman, J F Hess, David Clayton, Linda S. Wicker, Mathias H. Herr, Vincent H. Everett, Costantino Motzo, Dan Rainbow, Luc J. Smink

المصدر: Ueda, H, Howson, J M M, Esposito, L, Heward, J, Snook, H, Chamberlain, G, Rainbow, D B, Hunter, K M D, Smith, A N, Di Genova, G, Herr, M H, Dahlman, I, Payne, F, Smyth, D, Lowe, C, Twells, R C J, Howlett, S, Healy, B, Nutland, S, Rance, H E, Everett, V, Smink, L J, Lam, A C, Cordell, H J, Walker, N M, Bordin, C, Hulme, J, Motzo, C, Cucca, F, Hess, J F, Metzker, M L, Rogers, J, Gregory, S, Allahabadia, A, Nithiyananthan, R, Tuomilehto-Wolf, E, Tuomilehto, J, Bingley, P, Gillespie, K M, Undlien, D E, Ronningen, K S, Guja, C, Ionescu-Tirgoviste, C, Savage, D, Maxwell, A, Carson, D, Patterson, C, Franklyn, J A, Clayton, D G, Peterson, L B, Wicker, L S, Todd, J A & Gough, S C L 2003, ' Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease ' Nature, vol. 423 (6939), no. 6939, pp. 506-511 .

مصطلحات موضوعية: Immunoconjugates, Genotype, T-Lymphocytes, T cell, Population, chemical and pharmacologic phenomena, Biology, Polymorphism, Single Nucleotide, Autoimmune Diseases, Abatacept, PTPN22, Mice, 03 medical and health sciences, 0302 clinical medicine, Hypothyroidism, Gene mapping, Antigens, CD, medicine, Animals, Humans, Protein Isoforms, CTLA-4 Antigen, Genetic Predisposition to Disease, Allele, General, education, Gene, 030304 developmental biology, Regulator gene, Genetics, Autoimmune disease, 0303 health sciences, education.field_of_study, Multidisciplinary, Base Sequence, medicine.disease, Antigens, Differentiation, Graves Disease, 3. Good health, Alternative Splicing, Disease Models, Animal, Diabetes Mellitus, Type 1, medicine.anatomical_structure, Immunology, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4278267511fa630d26092f47f30edaeTest
https://doi.org/10.1038/nature01621Test

المؤلفون: L. McDade, Eric D. Green, Aravinda Chakravarti, Susan Lindsay, Justin Paschall, Aylwyn Scally, Deborah A. Nickerson, Chip Stewart, Stephen T. Sherry, Chunlin Xiao, Alex Reynolds, Carol Scott, H. M. Khouri, Pardis C. Sabeti, Xinmeng Jasmine Mu, Stephen B. Montgomery, Eric Banks, Gabor T. Marth, A. Caprio, Xiaole Zheng, Philip Awadalla, Qunyuan Zhang, Wei Chen, Matthew N. Bainbridge, Donna Muzny, Steven A. McCarroll, Jeffrey M. Kidd, Honglong Wu, Audrey Duncanson, Vladimir Makarov, Lilia M. Iakoucheva, Mark Gerstein, Han-Jun Jin, Can Alkan, Iman Hajirasouliha, T. J. Fennell, C. R. Juenger, J. Kidd, Chris Tyler-Smith, Qasim Ayub, D. Ashworth, Kristian Cibulskis, Yutao Fu, William M. McLaren, Sol Katzman, Yujun Zhang, Rajini R Haraksingh, A. Kebbel, Stuart L. Schreiber, Manual Rivas, Onur Sakarya, Tobias Rausch, Yuan Chen, M. Bachorski, Matthew E. Hurles, N. C. Clemm, Wei Wang, Xiangqun Zheng-Bradley, Adrian M. Sütz, Thomas M. Keane, E. Bank, Stephen F. McLaughlin, Javier Herrero, Jon Keebler, Simon Myers, Aleksandr Morgulis, James Nemesh, Jing Leng, Molly Przeworski, Alon Keinan, Lorraine Toji, Ilya Shlyakhter, Joshua M. Korn, Martine Zilversmit, Luke Jostins, Jun Wang, Jared Maguire, J. M. Korn, Ryan E. Mills, Seungtai Yoon, Bo Wang, F. M. De La Vega, Heng Li, L. Guccione, Laura Clarke, Huisong Zheng, Jeffrey K. Ichikawa, K. Kao, Kirill Rotmistrovsky, L. Gu, David B. Jaffe, David Haussler, Toby Bloom, Tara Skelly, S. Yoon, Gil McVean, Carrie Sougnez, Mark A. Batzer, A. De Witte, Ralf Herwig, Jane Wilkinson, Min Hu, K. Pareja, John V. Pearson, Robert E. Handsaker, Jerilyn A. Walker, Fuli Yu, Anthony A. Philippakis, Aniko Sabo, Jonathan Marchini, Ryan D. Hernandez, Guoqing Li, Peter Donnelly, Eric S. Lander, David J. Dooling, Jun Ding, Lukas Habegger, Pilar N. Ossorio, Andreas Dahl, Wilfried Nietfeld, Miriam F. Moffatt, Alexej Abyzov, Sebastian Zöllner, Ekta Khurana, Jean E. McEwen, Robert S. Fulton, Alexey Soldatov, Fiona Hyland, Philippe Lacroute, Richa Agarwala, Paul Flicek, Weichun Huang, Alison J. Coffey, Tony Cox, John W. Wallis, Robert Sanders, David Neil Cooper, Jason P. Affourtit, Mark A. DePristo, D Wheeler, Christopher Celone, Eugene Kulesha, Craig Elder Mealmaker, B. Desany, Zhengdong D. Zhang, Jonathan M. Manning, Cynthia L. Turcotte, Lisa D Brooks, Xiuqing Zhang, C. Coafra, Rajesh Radhakrishnan, Alan J. Schafer, Jonathan Sebat, Ken Chen, Andrew G. Clark, Alexis Christoforides, Edward V. Ball, Mark S. Guyer, Sharon R. Grossman, Philip Rosenstiel, J. Knowlton, Gonçalo R. Abecasis, Min Jian, James O. Burton, S. Wang, Lucinda Murray, George M. Weinstock, Mark Lathrop, Harold Swerdlow, Michael L. Metzker, Xiaowei Zhan, Yeyang Su, Ruibang Luo, Charles Lee, Huanming Yang, P. Marquardt, Charles N. Rotimi, Lynne V. Nazareth, Michael Snyder, Faheem Niazi, Quan Long, Jane Kaye, Michael Strömberg, Adam Auton, Michael Bauer, Cheng-Sheng Lee, S. Gabriel, Jim Stalker, Heather E. Peckham, D. Conners, Raffaella Smith, Yingrui Li, Niall Anthony Gormley, Megan Hanna, Jinchuan Xing, Hugo Y. K. Lam, S. Giles, Evan E. Eichler, Justin Jee, Loukas Moutsianas, Jiang Du, Hyun Min Kang, Eric F. Tsung, Ni Huang, Kai Ye, Stephen F. Schaffner, Suleyman Cenk Sahinalp, Xinghua Shi, Sean Humphray, Ahmet Kurdoglu, Amy L. McGuire, Sandra J. Lee, Linnea Fulton, Francis S. Collins, Huiqing Liang, S. C. Melton, A. Nawrocki, Aaron R. Quinlan, Tatjana Borodina, Lynn B. Jorde, Leopold Parts, Michael D. McLellan, Adrian M. Stütz, Paul Scheet, Amit Indap, Vyacheslav Amstislavskiy, Waibhav Tembe, S. Attiya, Jin Yu, Dmitri Parkhomchuk, Si Quang Le, Fabian Grubert, E. Buglione, Ruiqiang Li, Yan Zhou, Fiona Cunningham, Gilean McVean, Wan-Ping Lee, W. Song, Richard Durbin, Andrew Kernytsky, Stephen M. Beckstrom-Sternberg, Xin Ma, J. Jeng, Lauren Ambrogio, Carol Churcher, Ryan Poplin, William O.C.M. Cookson, Rasko Leinonen, Alexey N. Davydov, Kenny Ye, Paige Anderson, Alexander E. Urban, Adam Felsenfeld, Jeffrey S. Reid, Cornelis A. Albers, Jan O. Korbel, Senduran Balasubramaniam, Elaine R. Mardis, Gozde Aksay, Peter H. Sudmant, Aaron McKenna, M. Labrecque, Amanda J. Price, Vadim Zalunin, Donald F. Conrad, Florian Mertes, Christie Kovar, Danny Challis, A. D. Ball, Petr Danecek, Kiran V. Garimella, Bryan Howie, Scott Kahn, Shuaishuai Tai, E. P. Garrison, Robert D. Bjornson, Shankar Balasubramanian, Fereydoun Hormozdiari, Geng Tian, S. Clark, Joanna L. Kelley, Asif T. Chinwalla, Ramenani Ravi K, Ralf Sudbrak, Mark Kaganovich, Jeffrey C. Barrett, David Rio Deiros, Jeremiah D. Degenhardt, A. Palotie, Alistair Ward, Gianna Costa, Huyen Dinh, M. Minderman, R. Keira Cheetham, Jingxiang Li, Michael A. Quail, P. Koko-Gonzales, Alastair Kent, Martin Shumway, David R. Bentley, Ferran Casals, Leena Peltonen, Klaudia Walter, Christopher Hartl, Erica Shefler, Zhaolei Zhang, Hans Lehrach, Jessica L. Peterson, Roger Winer, Daniel C. Koboldt, D. Riches, Terena James, Wen Fung Leong, Michael Egholm, Thomas W. Blackwell, Peter D. Stenson, Anthony J. Cox, Andrew D. Kern, David M. Carter, M. Tolzmann, Daniel G. MacArthur, Jiantao Wu, Jennifer Stone, Angie S. Hinrichs, M. Albrecht, Jo Knight, Chang-Yun Lin, Adam R. Boyko, Dan Turner, Xiaodong Fang, Youssef Idaghdour, Liming Liang, Ryan N. Gutenkunst, David Craig, Mark J. Daly, Xiaosen Guo, Neda Gharani, Gerton Lunter, Shuli Kang, A. Burke, Shripad Sinari, Yongming A. Sun, Zoya Kingsbury, Robert M. Kuhn, Miriam K. Konkel, T. Li, Kevin McKernan, Simon Gravel, Brian L. Browning, C Sidore, Zamin Iqbal, Matthew Mort, Afidalina Tumian, Michael C. Wendl, Adam Phillips, Bernd Timmermann, Carlos Bustamante, H. Y. Lam, Deniz Kural, Richard A. Gibbs, Bartha Maria Knoppers, Emmanouil T. Dermitzakis, Lon Phan, Richard K. Wilson, D. L. Altshuler, S. Keenen, Assya Abdallah, Eric A. Stone, Michael A. Eberle, Li Ding

المساهمون: Broad Institute of MIT and Harvard

المصدر: Nature, vol 470, iss 7332
Nature
Nature, 470(7332), 59-65
PMC

مصطلحات موضوعية: DNA Copy Number Variations, Genotype, Population, Genomic Structural Variation, Genomics, Computational biology, Biology, Genome, Article, DNA sequencing, structural variation segmental duplications short-read rearrangements disorders disease common schizophrenia polymorphism insertions, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Insertional, Genetics, Humans, Genetic Predisposition to Disease, Copy-number variation, 1000 Genomes Project, education, Sequence Deletion, 030304 developmental biology, 0303 health sciences, education.field_of_study, Multidisciplinary, Genome, Human, Reproducibility of Results, Sequence Analysis, DNA, DNA, Mutagenesis, Insertional, Genetics, Population, Mutagenesis, Human genome, Sequence Analysis, 030217 neurology & neurosurgery, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269d6a83a9f2331dd1a0b27b4a0987d5Test
https://hdl.handle.net/1887/108472Test

المؤلفون: Michael L. Metzker, Xiao Mei Liu, David P. Mindell, Roger G. Ptak, Richard A. Gibbs, David M. Hillis

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 99(22)

مصطلحات موضوعية: Paraphyly, Male, Lineage (evolution), Molecular Sequence Data, HIV Infections, Biology, HIV Envelope Protein gp120, DNA sequencing, Phylogenetics, Genotype, Humans, Gene, Crime Victims, Phylogeny, Genetics, Multidisciplinary, Phylogenetic tree, Base Sequence, Sequence Analysis, DNA, Forensic Medicine, Biological Sciences, Reverse transcriptase, HIV Reverse Transcriptase, DNA, Viral, HIV-1, Female, Crime

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b40d71f9ec75d8a7640dc21821d6a336Test
https://pubmed.ncbi.nlm.nih.gov/12388776Test

المؤلفون: Matthew Gilbey, Andrew E. Timms, Frank Dudbridge, Charles A. Mein, Yusuke Nakagawa, John A. Todd, Helen E. Rance, Jaakko Tuomilehto, Michael L. Metzker, Sarah Nutland, Jason D. Cooper, Felicity Payne, Hywel Snook, Matthew Bright, Eva Tuomilehto-Wolf, Riitta Veijola, J. Fred Hess, Rebecca C.J. Twells, Philippa Carr, Heather J. Cordell, Michael S. Phillips

المصدر: Human genetics. 113(2)

مصطلحات موضوعية: Genetics, Genotype, Genetic Linkage, Chromosomes, Human, Pair 11, Haplotype, Chromosome, Chromosome Mapping, Locus (genetics), Biology, Genome, Human genetics, Diabetes Mellitus, Type 1, Low Density Lipoprotein Receptor-Related Protein-5, Receptors, LDL, Genetic linkage, Humans, Association mapping, Genetics (clinical), LDL-Receptor Related Proteins, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f287db31027b4624f9752bdb60cb6e2Test
https://pubmed.ncbi.nlm.nih.gov/12700977Test