Results 11 to 20 of about 5,512,004 (328)

Long-Read Sequencing Emerging in Medical Genetics

Frontiers in Genetics, 2019
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen   +7 more
doaj   +2 more sources

Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis. [PDF]

BMJ Open Respir Res, 2016
Background Cystic fibrosis (CF) is the most common autosomal recessive, life-shortening disease among people of European origin. Type of genetic mutation and regular physical exercise has an impact on clinical outcome. This cross-sectional study explores
Backström-Eriksson L, Bergsten-Brucefors A, Hjelte L, Melin B, Sorjonen K.   +4 more
europepmc   +2 more sources

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
C. Stoll
openaire   +2 more sources

ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics [PDF]

Computer Vision and Pattern Recognition, 2021
High annotation costs are a substantial bottleneck in applying modern deep learning architectures to clinically relevant medical use cases, substantiating the need for novel algorithms to learn from unlabeled data. In this work, we propose ContIG, a self-
Aiham Taleb, Matthias Kirchler, Remo Monti, Christoph Lippert   +3 more
semanticscholar   +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, M. 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 M 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

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in Medicine, 2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory services.
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm   +11 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

Medical genetics in China. [PDF]

Journal of Medical Genetics, 1979
In many areas the Chinese are considered behind the western world in their biomedical research, but they are keen to catch up, have all the contacts needed for this, and work extremely hard. Human genetics seems to have been particularly affected during the cultural revolution. This may be because they were, until recently, quite significantly affected
Bodmer, W, Clarke, C
openaire   +4 more sources

Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

Journal of Community Genetics, 2021
Despite clinical and technological advances, serious gaps remain in delivering genetic services due to disparities in workforce distribution and lack of coverage for genetic testing and counseling.
Ann F. Chou, Ashten R. Duncan, G. Hallford, David M. Kelley, L. W. Dean   +4 more
semanticscholar   +1 more source