المؤلفون: Nathan Pankratz, Peng Wei, Jennifer A Brody, Ming-Huei Chen, Paul S de Vries, Jennifer E Huffman, Mary Rachel Stimson, Paul L Auer, Eric Boerwinkle, Mary Cushman, Moniek P M de Maat, Aaron R Folsom, Oscar H Franco, Richard A Gibbs, Kelly K Haagenson, Albert Hofman, Jill M Johnsen, Christie L Kovar, Robert Kraaij, Barbara McKnight, Ginger A Metcalf, Donna Muzny, Bruce M Psaty, Weihong Tang, André G Uitterlinden, Jeroen G J van Rooij, Abbas Dehghan, Christopher J O'Donnell, Alex P Reiner, Alanna C Morrison, Nicholas L Smith

المصدر: Hum Mol Genet

مصطلحات موضوعية: Factor VIII, Exome Sequencing, von Willebrand Factor, Genetics, Fibrinogen, Humans, Original Article, General Medicine, Factor VII, Polymorphism, Single Nucleotide, Molecular Biology, Hemostatics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a7d75c79ba75f31f58b4ffc1eb8bf6
https://doi.org/10.1093/hmg/ddac100

المؤلفون: Liewei Wang, Steven E. Scherer, Suzette J. Bielinski, Donna M. Muzny, Leila A. Jones, John Logan Black, Ann M. Moyer, Jyothsna Giri, Richard R. Sharp, Eric T. Matey, Jessica A. Wright, Lance J. Oyen, Wayne T. Nicholson, Mathieu Wiepert, Terri Sullard, Timothy B. Curry, Carolyn R. Rohrer Vitek, Tammy M. McAllister, Jennifer L. St. Sauver, Pedro J. Caraballo, Konstantinos N. Lazaridis, Eric Venner, Xiang Qin, Jianhong Hu, Christie L. Kovar, Viktoriya Korchina, Kimberly Walker, HarshaVardhan Doddapaneni, Tsung-Jung Wu, Ritika Raj, Shawn Denson, Wen Liu, Gauthami Chandanavelli, Lan Zhang, Qiaoyan Wang, Divya Kalra, Mary Beth Karow, Kimberley J. Harris, Hugues Sicotte, Sandra E. Peterson, Amy E. Barthel, Brenda E. Moore, Jennifer M. Skierka, Michelle L. Kluge, Katrina E. Kotzer, Karen Kloke, Jessica M. Vander Pol, Heather Marker, Joseph A. Sutton, Adrijana Kekic, Ashley Ebenhoh, Dennis M. Bierle, Michael J. Schuh, Christopher Grilli, Sara Erickson, Audrey Umbreit, Leah Ward, Sheena Crosby, Eric A. Nelson, Sharon Levey, Michelle Elliott, Steve G. Peters, Naveen Pereira, Mark Frye, Fadi Shamoun, Matthew P. Goetz, Iftikhar J. Kullo, Robert Wermers, Jan A. Anderson, Christine M. Formea, Razan M. El Melik, John D. Zeuli, Joseph R. Herges, Carrie A. Krieger, Robert W. Hoel, Jodi L. Taraba, Scott R. St. Thomas, Imad Absah, Matthew E. Bernard, Stephanie R. Fink, Andrea Gossard, Pamela L. Grubbs, Therese M. Jacobson, Paul Takahashi, Sharon C. Zehe, Susan Buckles, Michelle Bumgardner, Colette Gallagher, Kelliann Fee-Schroeder, Nichole R. Nicholas, Melody L. Powers, Ahmed K. Ragab, Darcy M. Richardson, Anthony Stai, Jaymi Wilson, Joel E. Pacyna, Janet E. Olson, Erica J. Sutton, Annika T. Beck, Caroline Horrow, Krishna R. Kalari, Nicholas B. Larson, Hongfang Liu, Liwei Wang, Guilherme S. Lopes, Bijan J. Borah, Robert R. Freimuth, Ye Zhu, Debra J. Jacobson, Matthew A. Hathcock, Sebastian M. Armasu, Michaela E. McGree, Ruoxiang Jiang, Tyler H. Koep, Jason L. Ross, Matthew G. Hilden, Kathleen Bosse, Bronwyn Ramey, Isabelle Searcy, Eric Boerwinkle, Richard A. Gibbs, Richard M. Weinshilboum

المصدر: Genet Med

مصطلحات موضوعية: Academic Medical Centers, Base Sequence, Cytochrome P-450 CYP2D6, Genotype, Pharmacogenetics, Humans, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d355d871839420df942f373e190f5c
https://pubmed.ncbi.nlm.nih.gov/35331649

المؤلفون: Devin P. Locke, LaDeana W. Hillier, Wesley C. Warren, Kim C. Worley, Lynne V. Nazareth, Donna M. Muzny, Shiaw-Pyng Yang, Zhengyuan Wang, Asif T. Chinwalla, Pat Minx, Makedonka Mitreva, Lisa Cook, Kim D. Delehaunty, Catrina Fronick, Heather Schmidt, Lucinda A. Fulton, Robert S. Fulton, Joanne O. Nelson, Vincent Magrini, Craig Pohl, Tina A. Graves, Chris Markovic, Andy Cree, Huyen H. Dinh, Jennifer Hume, Christie L. Kovar, Gerald R. Fowler, Gerton Lunter, Stephen Meader, Andreas Heger, Chris P. Ponting, Tomas Marques-Bonet, Can Alkan, Lin Chen, Ze Cheng, Jeffrey M. Kidd, Evan E. Eichler, Simon White, Stephen Searle, Albert J. Vilella, Yuan Chen, Paul Flicek, Jian Ma, Brian Raney, Bernard Suh, Richard Burhans, Javier Herrero, David Haussler, Rui Faria, Olga Fernando, Fleur Darré, Domènec Farré, Elodie Gazave, Meritxell Oliva, Arcadi Navarro, Roberta Roberto, Oronzo Capozzi, Nicoletta Archidiacono, Giuliano Della Valle, Stefania Purgato, Mariano Rocchi, Miriam K. Konkel, Jerilyn A. Walker, Brygg Ullmer, Mark A. Batzer, Arian F. A. Smit, Robert Hubley, Claudio Casola, Daniel R. Schrider, Matthew W. Hahn, Victor Quesada, Xose S. Puente, Gonzalo R. Ordoñez, Carlos López-Otín, Tomas Vinar, Brona Brejova, Aakrosh Ratan, Robert S. Harris, Webb Miller, Carolin Kosiol, Heather A. Lawson, Vikas Taliwal, André L. Martins, Adam Siepel, Arindam RoyChoudhury, Xin Ma, Jeremiah Degenhardt, Carlos D. Bustamante, Ryan N. Gutenkunst, Thomas Mailund, Julien Y. Dutheil, Asger Hobolth, Mikkel H. Schierup, Oliver A. Ryder, Yuko Yoshinaga, Pieter J. de Jong, George M. Weinstock, Jeffrey Rogers, Elaine R. Mardis, Richard A. Gibbs, Richard K. Wilson

المصدر: Nature. 608:E36-E36

مصطلحات موضوعية: Multidisciplinary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f6d20cdb9021fd31132dd0c7200dd7b7
https://doi.org/10.1038/s41586-022-04799-7

المؤلفون: Ariel D Chipman, David E K Ferrier, Carlo Brena, Jiaxin Qu, Daniel S T Hughes, Reinhard Schröder, Montserrat Torres-Oliva, Nadia Znassi, Huaiyang Jiang, Francisca C Almeida, Claudio R Alonso, Zivkos Apostolou, Peshtewani Aqrawi, Wallace Arthur, Jennifer C J Barna, Kerstin P Blankenburg, Daniela Brites, Salvador Capella-Gutiérrez, Marcus Coyle, Peter K Dearden, Louis Du Pasquier, Elizabeth J Duncan, Dieter Ebert, Cornelius Eibner, Galina Erikson, Peter D Evans, Cassandra G Extavour, Liezl Francisco, Toni Gabaldón, William J Gillis, Elizabeth A Goodwin-Horn, Jack E Green, Sam Griffiths-Jones, Cornelis J P Grimmelikhuijzen, Sai Gubbala, Roderic Guigó, Yi Han, Frank Hauser, Paul Havlak, Luke Hayden, Sophie Helbing, Michael Holder, Jerome H L Hui, Julia P Hunn, Vera S Hunnekuhl, LaRonda Jackson, Mehwish Javaid, Shalini N Jhangiani, Francis M Jiggins, Tamsin E Jones, Tobias S Kaiser, Divya Kalra, Nathan J Kenny, Viktoriya Korchina, Christie L Kovar, F Bernhard Kraus, François Lapraz, Sandra L Lee, Jie Lv, Christigale Mandapat, Gerard Manning, Marco Mariotti, Robert Mata, Tittu Mathew, Tobias Neumann, Irene Newsham, Dinh N Ngo, Maria Ninova, Geoffrey Okwuonu, Fiona Ongeri, William J Palmer, Shobha Patil, Pedro Patraquim, Christopher Pham, Ling-Ling Pu, Nicholas H Putman, Catherine Rabouille, Olivia Mendivil Ramos, Adelaide C Rhodes, Helen E Robertson, Hugh M Robertson, Matthew Ronshaugen, Julio Rozas, Nehad Saada, Alejandro Sánchez-Gracia, Steven E Scherer, Andrew M Schurko, Kenneth W Siggens, DeNard Simmons, Anna Stief, Eckart Stolle, Maximilian J Telford, Kristin Tessmar-Raible, Rebecca Thornton, Maurijn van der Zee, Arndt von Haeseler, James M Williams, Judith H Willis, Yuanqing Wu, Xiaoyan Zou, Daniel Lawson, Donna M Muzny, Kim C Worley, Richard A Gibbs, Michael Akam, Stephen Richards

المصدر: PLoS Biology, Vol 12, Iss 11, p e1002005 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/e3791b30489f4c739cd076841b2b4030

المؤلفون: Joshua C Bis, Anita DeStefano, Xiaoming Liu, Jennifer A Brody, Seung Hoan Choi, Benjamin F J Verhaaren, Stéphanie Debette, M Arfan Ikram, Eyal Shahar, Kenneth R Butler, Rebecca F Gottesman, Donna Muzny, Christie L Kovar, Bruce M Psaty, Albert Hofman, Thomas Lumley, Mayetri Gupta, Philip A Wolf, Cornelia van Duijn, Richard A Gibbs, Thomas H Mosley, W T Longstreth, Eric Boerwinkle, Sudha Seshadri, Myriam Fornage

المصدر: PLoS ONE, Vol 9, Iss 6, p e99798 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4069013?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2645886fc6524434813771f7b79b3270

المؤلفون: Kerstin, Lindblad-Toh, Manuel, Garber, Or, Zuk, Michael F, Lin, Brian J, Parker, Stefan, Washietl, Pouya, Kheradpour, Jason, Ernst, Gregory, Jordan, Evan, Mauceli, Lucas D, Ward, Craig B, Lowe, Alisha K, Holloway, Michele, Clamp, Sante, Gnerre, Jessica, Alföldi, Kathryn, Beal, Jean, Chang, Hiram, Clawson, James, Cuff, Federica, Di Palma, Stephen, Fitzgerald, Paul, Flicek, Mitchell, Guttman, Melissa J, Hubisz, David B, Jaffe, Irwin, Jungreis, W James, Kent, Dennis, Kostka, Marcia, Lara, Andre L, Martins, Tim, Massingham, Ida, Moltke, Brian J, Raney, Matthew D, Rasmussen, Jim, Robinson, Alexander, Stark, Albert J, Vilella, Jiayu, Wen, Xiaohui, Xie, Michael C, Zody, Jen, Baldwin, Toby, Bloom, Chee Whye, Chin, Dave, Heiman, Robert, Nicol, Chad, Nusbaum, Sarah, Young, Jane, Wilkinson, Kim C, Worley, Christie L, Kovar, Donna M, Muzny, Richard A, Gibbs, Andrew, Cree, Huyen H, Dihn, Gerald, Fowler, Shalili, Jhangiani, Vandita, Joshi, Sandra, Lee, Lora R, Lewis, Lynne V, Nazareth, Geoffrey, Okwuonu, Jireh, Santibanez, Wesley C, Warren, Elaine R, Mardis, George M, Weinstock, Richard K, Wilson, Kim, Delehaunty, David, Dooling, Catrina, Fronik, Lucinda, Fulton, Bob, Fulton, Tina, Graves, Patrick, Minx, Erica, Sodergren, Ewan, Birney, Elliott H, Margulies, Javier, Herrero, Eric D, Green, David, Haussler, Adam, Siepel, Nick, Goldman, Katherine S, Pollard, Jakob S, Pedersen, Eric S, Lander, Manolis, Kellis

المساهمون: Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science, Kellis, Manolis, Mag Washietl, Stefan, Kheradpour, Pouya, Ernst, Jason, Ward, Lucas D., Jungreis, Irwin, Rasmussen, Matthew D.

المصدر: Nature
PubMed Central
Lindblad-Toh, K, Garber, M, Zuk, O, Lin, M F, Parker, B J, Washietl, S, Kheradpour, P, Ernst, J, Jordan, G, Mauceli, E, Ward, L D, Lowe, C B, Holloway, A K, Clamp, M, Gnerre, S, Alföldi, J, Beal, K, Chang, J, Clawson, H, Cuff, J, Di Palma, F, Fitzgerald, S, Flicek, P, Guttman, M, Hubisz, M J, Jaffe, D B, Jungreis, I, Kent, W J, Kostka, D, Lara, M, Martins, A L, Massingham, T, Moltke, I, Raney, B J, Rasmussen, M D, Robinson, J, Stark, A, Vilella, A J, Wen, J, Xie, X, Zody, M C, Baldwin, J, Bloom, T, Chin, C W, Heiman, D, Nicol, R, Nusbaum, C, Young, S, Wilkinson, J, Pedersen, J S & Broad Institute Sequencing Platform and Whole Genome Assembly Team 2011, ' A high-resolution map of human evolutionary constraint using 29 mammals ', Nature, vol. 478, no. 7370, pp. 476-82 . https://doi.org/10.1038/nature10530

مصطلحات موضوعية: Genome evolution, Genomics, Computational biology, Biology, Human accelerated regions, Genome, Article, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Animals, Humans, Coding region, Disease, Selection, Genetic, Gene, Phylogeny, 030304 developmental biology, Mammals, Genetics, 0303 health sciences, Multidisciplinary, Genome, Human, Molecular Sequence Annotation, Exons, Sequence Analysis, DNA, 3. Good health, Health, RNA, Human genome, Mobile genetic elements, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669061f2d8cec3d08d25af001dba00db
http://europepmc.org/articles/PMC3207357