المؤلفون: Ramirez, Andrea H, Sulieman, Lina, Schlueter, David J, Halvorson, Alese, Qian, Jun, Ratsimbazafy, Francis, Loperena, Roxana, Mayo, Kelsey, Basford, Melissa, Deflaux, Nicole, Muthuraman, Karthik N, Natarajan, Karthik, Kho, Abel, Xu, Hua, Wilkins, Consuelo, Anton-Culver, Hoda, Boerwinkle, Eric, Cicek, Mine, Clark, Cheryl R, Cohn, Elizabeth, Ohno-Machado, Lucila, Schully, Sheri D, Ahmedani, Brian K, Argos, Maria, Cronin, Robert M, O’Donnell, Christopher, Fouad, Mona, Goldstein, David B, Greenland, Philip, Hebbring, Scott J, Karlson, Elizabeth W, Khatri, Parinda, Korf, Bruce, Smoller, Jordan W, Sodeke, Stephen, Wilbanks, John, Hentges, Justin, Mockrin, Stephen, Lunt, Christopher, Devaney, Stephanie A, Gebo, Kelly, Denny, Joshua C, Carroll, Robert J, Glazer, David, Harris, Paul A, Hripcsak, George, Philippakis, Anthony, Roden, Dan M, Program, the All of Us Research, Ahmedani, Brian, Johnson, Christine D Cole, Ahsan, Habib, Antoine-LaVigne, Donna, Singleton, Glendora, Topol, Eric, Baca-Motes, Katie, Steinhubl, Steven, Wade, James, Begale, Mark, Jain, Praduman, Sutherland, Scott, Lewis, Beth, Behringer, Melissa, Gharavi, Ali G, Bier, Louise, Brilliant, Murray H, Murali, Narayana, Hebbring, Scott Joseph, Farrar-Edwards, Dorothy, Burnside, Elizabeth, Drezner, Marc K, Taylor, Amy, Channamsetty, Veena, Montalvo, Wanda, Sharma, Yashoda, Chinea, Carmen, Jenks, Nancy, Thibodeau, Steve, Holmes, Beverly Wilson, Schlueter, Eric, Collier, Ever, Winkler, Joyce, Corcoran, John, D’Addezio, Nick, Daviglus, Martha, Winn, Robert, Roden, Dan, Denny, Joshua, Doheny, Kim, Nickerson, Debbie, Eichler, Evan, Jarvik, Gail, Funk, Gretchen

المصدر: Patterns. 3(8)

مصطلحات موضوعية: Networking and Information Technology R&D (NITRD), Clinical Research, Cardiovascular, Cancer, Generic health relevance, Good Health and Well Being, All of Us Research Program, cloud-based analytics, cohort study, electronic health records, precision medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2dr9q0p7Test

المؤلفون: Hu, Yao, Stilp, Adrienne M, McHugh, Caitlin P, Rao, Shuquan, Jain, Deepti, Zheng, Xiuwen, Lane, John, de Bellefon, Sébastian Méric, Raffield, Laura M, Chen, Ming-Huei, Yanek, Lisa R, Wheeler, Marsha, Yao, Yao, Ren, Chunyan, Broome, Jai, Moon, Jee-Young, de Vries, Paul S, Hobbs, Brian D, Sun, Quan, Surendran, Praveen, Brody, Jennifer A, Blackwell, Thomas W, Choquet, Hélène, Ryan, Kathleen, Duggirala, Ravindranath, Heard-Costa, Nancy, Wang, Zhe, Chami, Nathalie, Preuss, Michael H, Min, Nancy, Ekunwe, Lynette, Lange, Leslie A, Cushman, Mary, Faraday, Nauder, Curran, Joanne E, Almasy, Laura, Kundu, Kousik, Smith, Albert V, Gabriel, Stacey, Rotter, Jerome I, Fornage, Myriam, Lloyd-Jones, Donald M, Vasan, Ramachandran S, Smith, Nicholas L, North, Kari E, Boerwinkle, Eric, Becker, Lewis C, Lewis, Joshua P, Abecasis, Goncalo R, Hou, Lifang, O’Connell, Jeffrey R, Morrison, Alanna C, Beaty, Terri H, Kaplan, Robert, Correa, Adolfo, Blangero, John, Jorgenson, Eric, Psaty, Bruce M, Kooperberg, Charles, Walton, Russell T, Kleinstiver, Benjamin P, Tang, Hua, Loos, Ruth JF, Soranzo, Nicole, Butterworth, Adam S, Nickerson, Debbie, Rich, Stephen S, Mitchell, Braxton D, Johnson, Andrew D, Auer, Paul L, Li, Yun, Mathias, Rasika A, Lettre, Guillaume, Pankratz, Nathan, Laurie, Cathy C, Laurie, Cecelia A, Bauer, Daniel E, Conomos, Matthew P, Reiner, Alexander P, Consortium, NHLBI Trans-Omics for Precision Medicine

المصدر: American Journal of Human Genetics. 108(5)

مصطلحات موضوعية: Epidemiology, Biological Sciences, Health Sciences, Genetics, Biotechnology, Clinical Research, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Aged, Chromosomes, Human, Pair 16, Datasets as Topic, Erythrocytes, Female, Gene Editing, Genetic Variation, Genome-Wide Association Study, HEK293 Cells, Humans, Male, Middle Aged, National Heart, Lung, and Blood Institute (U.S.), Phenotype, Quality Control, Reproducibility of Results, United States, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, base editing, red blood cell traits, whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/24j6v92rTest

المؤلفون: Chen, Wei-Liang, Timms, Andrew, Pao, Emily, Chong, Jessica, Bamshad, Michael, Nickerson, Debbie, Doherty, Dan, Novotny, Edward, Saneto, Russell, Ellenbogen, Richard, Hauptman, Jason, Ojemann, Jeff, Dobyns, William, Aldinger, Kimberly, Mirzaa, Ghayda

المصدر: Genetics in Medicine ; volume 24, issue 3, page S64-S65 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.135Test
https://api.elsevier.com/content/article/PII:S1098360022001526?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022001526?httpAccept=text/plainTest

المؤلفون: Amendola, Laura M, Dorschner, Michael O, Robertson, Peggy D, Salama, Joseph S, Hart, Ragan, Shirts, Brian H, Murray, Mitzi L, Tokita, Mari J, Gallego, Carlos J, Kim, Daniel Seung, Bennett, James T, Crosslin, David R, Ranchalis, Jane, Jones, Kelly L, Rosenthal, Elisabeth A, Jarvik, Ella R, Itsara, Andy, Turner, Emily H, Herman, Daniel S, Schleit, Jennifer, Burt, Amber, Jamal, Seema M, Abrudan, Jenica L, Johnson, Andrew D, Conlin, Laura K, Dulik, Matthew C, Santani, Avni, Metterville, Danielle R, Kelly, Melissa, Foreman, Ann Katherine M, Lee, Kristy, Taylor, Kent D, Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A, Raffel, Leslie J, Gordon, Ora, Machini, Kalotina, Desnick, Robert J, Biesecker, Leslie G, Lubitz, Steven A, Mulchandani, Surabhi, Cooper, Greg M, Joffe, Steven, Richards, C Sue, Yang, Yaoping, Rotter, Jerome I, Rich, Stephen S, O’Donnell, Christopher J, Berg, Jonathan S, Spinner, Nancy B, Evans, James P, Fullerton, Stephanie M, Leppig, Kathleen A, Bennett, Robin L, Bird, Thomas, Sybert, Virginia P, Grady, William M, Tabor, Holly K, Kim, Jerry H, Bamshad, Michael J, Wilfond, Benjamin, Motulsky, Arno G, Scott, C Ronald, Pritchard, Colin C, Walsh, Tom D, Burke, Wylie, Raskind, Wendy H, Byers, Peter, Hisama, Fuki M, Rehm, Heidi, Nickerson, Debbie A, Jarvik, Gail P

المصدر: Genome Research. 25(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Biotechnology, Human Genome, Clinical Research, Good Health and Well Being, Adult, Black People, Exome, Female, Gene Frequency, Genes, Dominant, Genetic Association Studies, Genetic Testing, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Incidental Findings, Male, Phenotype, Polymorphism, Single Nucleotide, White People, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/19w813v8Test

المؤلفون: Murray, Joseph A., McLachlan, Stela, Adams, Paul C., Eckfeldt, John H., Garner, Chad P., Vulpe, Chris D., Gordeuk, Victor R., Brantner, Tricia, Leiendecker-Foster, Catherine, Killeen, Anthony A., Acton, Ronald T., Barcellos, Lisa F., Nickerson, Debbie A., Beckman, Kenneth B., McLaren, Gordon D., McLaren, Christine E.

المصدر: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 11(7)

مصطلحات موضوعية: SNP, risk factor, gluten allergy, intestine, absorption

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/24m0k25dTest

المؤلفون: McLaren, Christine E., Garner, Chad P., Constantine, Clare C., McLachlan, Stela, Vulpe, Chris D., Snively, Beverly M., Gordeuk, Victor R., Nickerson, Debbie A., Cook, James D., Leiendecker-Foster, Catherine, Beckman, Kenneth B., Eckfeldt, John H., Barcellos, Lisa F., Murray, Joseph A., Adams, Paul C., Acton, Ronald T., Killeen, Anthony A., McLaren, Gordon D.

المصدر: PLoS ONE. 6(3)

مصطلحات موضوعية: overload screening heirs, serum ferritin, transferrin saturation, hfe hemochromatosis, binding-capacity, common variants, g277s mutation, tmprss6 gene, metabolism, anemia

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7rp664d2Test

المؤلفون: Priest, James R., Osoegawa, Kazutoyo, Mohammed, Nebil, Nanda, Vivek, Kundu, Ramendra, Schultz, Kathleen, Lammer, Edward J., Girirajan, Santhosh, Scheetz, Todd, Waggott, Daryl, Haddad, Francois, Reddy, Sushma, Bernstein, Daniel, Burns, Trudy, Steimle, Jeffrey D., Yang, Xinan H., Moskowitz, Ivan P., Hurles, Matthew, Lifton, Richard P., Nickerson, Debbie, Bamshad, Michael, Eichler, Evan E., Mital, Seema, Sheffield, Val, Quertermous, Thomas, Gelb, Bruce D., Portman, Michael, Ashley, Euan A.

المصدر: http://knowledge.uchicago.edu/record/7333Test.

العلاقة: https://knowledge.uchicago.edu/record/7333/files/journal.pgen.1005963.pdfTest; https://knowledge.uchicago.edu/record/7333/files/pgen.1005963.zipTest; http://knowledge.uchicago.edu/record/7333Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005963Test
http://knowledge.uchicago.edu/record/7333Test

المؤلفون: Patowary, Ashok, Won, So Yeon, Oh, Shin Ji, Nesbitt, Ryan R, Archer, Marilyn, Nickerson, Debbie, Raskind, Wendy H., Bernier, Raphael, Lee, Ji Eun, Brkanac, Zoran

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Mental Health, Ministry of Science, ICT and Future Planning

المصدر: Translational Psychiatry ; volume 9, issue 1 ; ISSN 2158-3188

مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1038/s41398-018-0343-zTest
https://www.nature.com/articles/s41398-018-0343-z.pdfTest
https://www.nature.com/articles/s41398-018-0343-zTest

المؤلفون: Volkova, Evgeniya, Sippert, Emilia, Liu, Meihong, Mercado, Teresita, Denomme, Gregory A., Illoh, Orieji, Liu, Zhugong, Rios, Maria, Arnoni, Carine P., de Paula Vendrame, Tatiane A., Bein, Gregor, Sachs, Ulrich J., Aravechia, Maria G., Bub, Carolina B., Bunce, Mike, Pye, David, Castilho, Lilian, de Macedo, Mayra D., Constanzo, Jessica, Chevrier, Marie-Claire, Desjardins, Nathalie, Corgier, Benjamin, da Silva, Nelly, Mailloux, Agnès, Delaney, Meghan, Teramura, Gayle, Harris, Samantha, Heidl, Sarah, Bensing, Kathleen, Doescher, Andrea, Drnovsek, Tadeja D., Lukan, Anja, Flegel, Willy A., Srivastava, Kshitij, Frank, Rainer, König, Sabrina, Gassner, Christoph, Meyer, Stefan, Trost, Nadine, Hyland, Catherine, Liew, Yew-Wah, Roots, Naomi, Johnsen, Jill, Nickerson, Debbie, Wheeler, Marsha, Keller, Margaret, Horn, Trina, Keller, Jessica, Crottet, Sofia Lejon

المساهمون: Center for Biologics Evaluation and Research, Oak Ridge Institute for Science and Education, US Department of Energy, US Food and Drug Administration, Office of Blood Research and Review, Office of Minority Health

المصدر: The Journal of Molecular Diagnostics ; volume 21, issue 3, page 525-537 ; ISSN 1525-1578

الإتاحة: https://doi.org/10.1016/j.jmoldx.2019.02.003Test
https://api.elsevier.com/content/article/PII:S1525157818304239?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157818304239?httpAccept=text/plainTest

المؤلفون: Qi, Hongjian, Yu, Lan, Zhou, Xueya, Wynn, Julia, Zhao, Haoquan, Guo, Yicheng, Zhu, Na, Kitaygorodsky, Alexander, Hernan, Rebecca Rose, Aspelund, Gudrun, Lim, Foong-Yen, Crombleholme, Timothy, Cusick, Robert, Azarow, Kenneth, Danko, Melissa E., Chung, Dai, Warner, Brad W., Mychaliska, George B., Potoka, Douglas, Wagner, Amy J., ElFiky, Mahmoud, Wilson, Jay M., Nickerson, Debbie, Bamshad, Michael, High, Frances A., Longoni, Mauro, Donahoe, Patricia K., Chung, Wendy K., Shen, Yufeng

مصطلحات موضوعية: Diaphragmatic hernia, Genetic disorders, Myelin genes--Expression

العلاقة: https://doi.org/10.7916/d8-7awr-9988Test

الإتاحة: https://doi.org/10.7916/d8-7awr-9988Test