Results 11 to 20 of about 1,221,619 (355)

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
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The early history of medical genetics in Canada [PDF]

, 2004
This article shows that the intellectual and specialist movements that supported the growth of medical genetics in Canada between 1947 and 1990 were emergent phenomena, created, split, and reattached to different groups of actors, and reconfigured ...
Leeming, William
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External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]

, 1998
The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas, Deufel, Thomas, Geilenkeuser, Wolf-Jochen, Neumaier, Michael, Roscher, Adelbert, Röhle, Gerhard, Wagener, Christoph   +6 more
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Comparing genomic studies in animal breeding and human genetics: focus on disease-related traits in livestock — A review [PDF]

Animal Bioscience
Genomic studies of diseases can be divided into two types: i) analyses that reveal causal genes by focusing on linkage disequilibrium between observed and causal variants and ii) those that simultaneously assess numerous genetic markers to estimate the ...
Olivier Gervais, Yoshitaka Nagamine
doaj   +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
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Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
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Cis and Trans Effects of Human Genomic Variants on Gene Expression [PDF]

, 2014
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http ...
A Boyd, AC Nica, AC Nica, AH Talukder, Alfonso Buil, AR Wood, AS Dimas, BE Stranger, BE Stranger, BU Schraml, C Wallace, Christopher David Brown, David M. Evans, DF Conrad, DJ Gaffney, DL Nicolae, DM Greenawalt, Donald F. Conrad, E Grundberg, E Klopocki, EE Schadt, Emmanouil T. Dermitzakis, George Davey Smith, GR Abecasis, H Huang, HJ Westra, J Ding, J Millstein, J Zhu, JD Storey, JE Powell, JK Pickrell, John P. Kemp, Julien Bryois, K Hildner, Karen M. Ho, LA Hindorff, M Gutierrez-Arcelus, M Scutari, Matthew Hurles, ND Miller, NL Barbosa-Morais, Panos Deloukas, RW Jones, SB Montgomery, SB Montgomery, SJ Loughran, Stephen B. Montgomery, Susan Ring, T Lappalainen, TR Insel, W Wang, Y Li, Y Li   +53 more
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Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

Frontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
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Brown adipocytes can display a mammary basal myoepithelial cell phenotype in vivo [PDF]

, 2017
This work was supported by the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13030000) and the CAS-Novonordisk Foundation, as well as grants from the ‘1000 talents’ recruitment program, and a ‘Great-wall professorship’ from ...
Jin, Wanzhu, Król, Elżbieta, Li, Baoguo, Li, Li, Li, Min, Li, Ting, Niu, Chaoqun, Speakman, John R., Wang, Guanlin   +8 more
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Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Biology, 2023
Atrial fibrillation (AF), the most prevalent type of sustained cardiac dysrhythmia globally, confers strikingly enhanced risks for cognitive dysfunction, stroke, chronic cardiac failure, and sudden cardiovascular demise.
Ning Li, Yan-Jie Li, Xiao-Juan Guo, Shao-Hui Wu, Wei-Feng Jiang, Dao-Liang Zhang, Kun-Wei Wang, Li Li, Yu-Min Sun, Ying-Jia Xu, Yi-Qing Yang, Xing-Biao Qiu   +11 more
doaj   +1 more source