Results 11 to 20 of about 5,647,381 (313)

A Case-Based Active Learning Session for Medical Genetics Resources

MedEdPORTAL, 2021
Introduction As the clinical applications of medical genetics and genomics continue to expand, nongenetics professionals increasingly find themselves in the position of managing patients with genetic conditions. To prepare medical students to handle this
Hana Anderson, Amy C. Studer, Katharine N. Holm, Ayaka Suzuki   +3 more
doaj   +1 more source

A structural variation reference for medical and population genetics

Nature, 2020
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome ...
Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, L. Francioli, A. Khera, Chelsea Lowther, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, C. Stevens, N. Gupta, C. Cusick, L. Margolin, Irina M. Armean, E. Banks, Louis Bergelson, K. Cibulskis, K. Connolly, Miguel Covarrubias, Beryl B. Cummings, M. Daly, S. Donnelly, Y. Farjoun, S. Ferriera, S. Gabriel, Jeff Gentry, Thibault Jeandet, D. Kaplan, Christopher Llanwarne, E. Minikel, B. Neale, Sam Novod, A. O’Donnell-Luria, Nikelle Petrillo, T. Poterba, David Roazen, A. Saltzman, K. Samocha, Molly Schleicher, C. Seed, José Soto, Kathleen M. Tibbetts, C. Tolonen, C. Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, J. Ware, B. Weisburd, N. Whiffin, C. Salinas, Tariq Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, Judy H. Cho, M. Chung, Bruce Cohen, A. Correa, D. Dabelea, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosúa, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, Benjamin Glaser, S. Glatt, David B. Goldstein, Clicerio Gonzalez, L. Groop, Christopher A. Haiman, Craig Hanis, Matthew Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, Bong-Jo Kim, Y. J. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, Ronald C. W. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. Mccarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, P. M. Nilsson, M. O’Donovan, D. Öngür, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. B. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, Tuomi Tiinamaija, Ming Tsuang, D. Turner, Teresa Tusié-Luna, E. Vartiainen, H. Watkins, R. Weersma, M. Wessman, James G. Wilson, R. Xavier, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, M. Talkowski   +183 more
semanticscholar   +1 more source

The 2019 US medical genetics workforce: a focus on clinical genetics

Genetics in Medicine, 2021
This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Brittany D. Jenkins, Catherine G. Fischer, Courtney Polito, Deborah R. Maiese, Alisha Keehn, Megan Lyon, M. Edick, Matthew R Taylor, H. Andersson, J. Bodurtha, M. Blitzer, M. Muenke, M. Watson   +12 more
semanticscholar   +1 more source

THE ROLE OF GENETICS IN MODERN MEDICINE

Байкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk, Igor Zhanovich Seminsky   +1 more
doaj   +1 more source

Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics [PDF]

Revista Brasileira de Educação Médica, 2020
Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern ...
Débora Gusmão Melo, André Anjos da Silva, Antonette Souto El Husny, Victor Evangelista de Faria Ferraz   +3 more
doaj   +3 more sources

Aplicación de la genética de poblaciones en el ámbito de la medicina

Biomédica: revista del Instituto Nacional de Salud, 2014
Las poblaciones humanas obedecen a los mismos supuestos evolutivos que el resto de los organismos, aunque mezclados con elementos sociales y culturales que pueden promover la expresión de ciertas enfermedades en grupos étnicos específicos, causadas ...
Pablo Octavio-Aguilar, Josefina Ramos-Frías   +1 more
doaj   +1 more source

Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes [PDF]

Diabetes & Metabolism Journal
Background Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population.
Siqian Gong, Hong Lian, Yating Li, Xiaoling Cai, Wei Liu, Yingying Luo, Meng Li, Si-min Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Qian Ren, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Xirui Wang, Xueyao Han, Linong Ji   +18 more
doaj   +1 more source

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

On the relevance of the “genetics-based” approach to medicine for sociological perspectives on medical specialization [PDF]

, 2008
This paper draws on a study on the development of medical genetics as a medical specialism in the UK and Canada to reflect on how local and national contexts affect specialty formation.
Abbott, Allen, British Paediatric Association., Bucher, Burnham, Burnham, Burrage, Childs, Childs, Committee on Genetics As It Relates to Social Problems (Genetics Society of Canada)., Cox, Crosland, Davidson, Department of Health and Social Security., Department of Health and Social Security., Department of Health and Social Security., Department of Health and Social Security., Ford, Ford, Foucault, Freidson, Geison, Gesell, Glaser, Gould, Graham, Hagstrom, Hall, Harwood, Haug, Hedgecoe, Herndon, Hickman, Hughes, Hughes, Janowitz, Johnson, Johnson, Johnston, Keating, Kerr, Kevles, Larson, Lassen, Leeming, Leeming, Leeming, Lejeune, Levine, Lewis, Lewis, Lin-Fu, Lindee, Macklin, Macklin, McClelland, McLaren, Medical Research Council Sub-Committee on Genetics., Medical Research Council/Department of Health and Social Security Joint Working Group on Genetics., Merton, Miller, Miller, Motulsky, Neel, Paul, Pernick, Powell, Ramsey, Reed, Riccardi, Riccardi, Ritzer, Robbins, Roberts, Robertson, Rueschemeyer, Rushton, Sapp, Scarbrough, Shinn, Shortt, Snyder, Steering Committee., Stevenson, Storer, Subcommittee on Objectives of Teaching, Association of American Medical Colleges., Thompson, Thompson, Weisz, Wilensky, William Leeming, Yoxen, Zola   +92 more
core   +1 more source

Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon [PDF]

, 2015
BACKGROUND There is limited assessment of whether research participants in low-income settings are afforded a full understanding of the meaning of medical research. There may also be particular issues with the understanding of genetic research.
Bhutta, Doris N. Nyoh, Gail Davey, James D. Millard, Jonas A. Kengne-Ouafo, Mandava, Melanie J. Newport, Mfutso-Bengo, Nicholas Tendongfor, Peter A. Enyong, Samuel Wanji, Theobald M. Nji, William F. Tantoh   +12 more
core   +1 more source