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doi:10.3389/fpubh.2018.00121 pmid:29761096 pmcid:PMC5937027 fatcat:mlmwl5tpznbpbfujeko5qoayee
Consequently, attention has shifted toward rare and monogenic diseases where the gene and phenotype(s) may result in more clear causal pathologies. ... s. (31) work to provide examples from the literature of how genomics BOX 5 | Case Study-Ethical, legal, and social implications to consider for applications of public health genomics. ...doi:10.3389/fpubh.2018.00247 pmid:30234091 pmcid:PMC6131666 fatcat:3uhpynkxy5anhfml5tnf6mgtky
J S Dawkins, Peter D Sinden and Peter C O'Leary ABSTRACT ■ The patent system has been seen as a critical factor driving innovation in clinical medicine, particularly in medical devices and diagnostic ... patent rights in this way is directly contrary to the fundamental policy objectives underlying the patent system. 7 Human gene patents: the possible impacts on genetic services healthcare Ian R Walpole, Hugh ...pmid:12914511 fatcat:jonpw6z5zfedlhp5zv73eb67sa
Field inversion gel electrophoresis (FIGE) has made separation of very large DNA and intact chromosomes a simple operation by utilising conventional submarine agarose gel electrophoresis equipment in conjunction with a switching unit to control the electric fieldl2.doi:10.1093/nar/15.8.3634 pmid:3575112 pmcid:PMC340767 fatcat:zbda46mfgbfrhprtt2a3z6tvhq
However, the type of model for gatekeeping genomic testing, genetic counselling and seeking consent will depend on the characteristics of the condition/s being tested for and the test. ... higher than usual risk of having an offspring with a genetic condition who may wish to access such a technology to proactively prevent their future child having or developing that specific genetic disease/s. ... Copyright © 2019 Burns, Bilkey, Coles, Bowman, Beilby, Pachter, Baynam, Dawkins, Weeramanthri and Nowak. ...doi:10.3389/fpubh.2019.00041 pmid:30915324 pmcid:PMC6421399 fatcat:buyejy2gjrextjtn6afiainxcy
doi:10.3389/fpubh.2015.00214 pmid:26442241 pmcid:PMC4564656 fatcat:l2qi4unvgvcz7a6a5mfekv54vu
Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population groups, with a view to improving the overall health of populations. This promises to lead to more precise clinical and public health practices, across the continuum of prevention, screening, diagnosis, and treatment. A phenotype is the set of observable characteristics of an individual resulting from the interaction of a genotype with thedoi:10.3389/fpubh.2017.00031 pmid:28443272 pmcid:PMC5385440 fatcat:s7wkmcoginadbob6bvuztlaggi
more »... nment. Precision (deep) phenotyping applies innovative technologies to exhaustively and more precisely examine the discrete components of a phenotype and goes beyond the information usually included in medical charts. This form of phenotyping is a critical component of more precise diagnostic capability and 3-dimensional facial analysis (3DFA) is a key technological enabler in this domain. In this paper, we examine the potential of 3DFA as a public health tool, by viewing it against the 10 essential public health services of the "public health wheel," developed by the US Centers for Disease Control. This provides an illustrative framework to gage current and emergent applications of genomic technologies for implementing precision public health.
This follows identification of increased risk of the embryo having a genetic condition via molecular diagnosis or carrier screening of the parent/s. ... Prognostic Utilizes gene variant/s or expression information to predict disease progression, severity and outcomes, as well as optimize and monitor therapeutic interventions. ... Copyright © 2019 Bilkey, Burns, Coles, Bowman, Beilby, Pachter, Baynam, Dawkins, Nowak and Weeramanthri. ...doi:10.3389/fpubh.2019.00040 pmid:30915323 pmcid:PMC6421958 fatcat:mpqzeav435egxoqr6fsfnkikwu
doi:10.1038/ejhg.2014.197 pmid:25248399 pmcid:PMC4795058 fatcat:kl3xk4zbgremtg2d5wykncxc6e
GB, SM-J, AC, VS, HD, and NL critically revised the manuscript for important intellectual content. ... Participants recommended that, as part of a program, information should be provided that would make the aim(s) of the program clear and encapsulate the benefits, risks, harms, consequences, uncertainties ...doi:10.3389/fpubh.2017.00025 pmid:28286745 pmcid:PMC5323409 fatcat:j3cewopymvgcnoyvlk2cenkgdq
Genetics in Medicine
In some cases, because of discrepancies between the ICD-10 and ICD-10-AM coding systems, the ICD-10-AM code(s) that specifically corresponded to an Orpha code was different from the ICD-10 code provided ... disease 89 88 1.5 1 Rare circulatory system disease 8 7 1.3 1 Rare abdominal surgical disease a a a a Impact of rare diseases in Western Australia | WALKER et al © The Author(s) ...doi:10.1038/gim.2016.143 pmid:27657686 pmcid:PMC5440569 fatcat:ypmesokgwrfwvijh2hewzbskyq
npj Genomic Medicine
in partnership with CEGMR, King Abdulaziz University npj Genomic Medicine (2020) 54 npj Genomic Medicine (2020) 54Published in partnership with CEGMR, King Abdulaziz University © The Author(s) ... Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) ...doi:10.1038/s41525-020-00161-w pmid:33303739 fatcat:bowhun4ghzalhhu7qhisrlx6uy
, Hugh, J.S ... Jiang, Simon, H. 6 21 ; Meldrum, Cliff, J. 22 ; Nagaraj, Shivashankar, H. 23 ; Newman, Saul, J. 24 ; Nunn, Jack, S. 25 ; Ormond-Parker, Lyndon 26 ; Orr, Neil, J. 5 ; Paliwal, Devashi ...doi:10.1016/j.ajhg.2020.06.005 pmid:32763188 pmcid:PMC7413856 fatcat:zjn6n25oeve6tlqmpq6cle3l4q
EEE is supported by NIH 5R01MH101221 and as an investigator of Howard Hughes Medical Institute. CR acknowledges funding by the Italian Ministry of Health, Project RC2019 No. 2751604. ... The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in ... Copyright © 2019 Nellåker, Alkuraya, Baynam, Bernier, Bernier, Boulanger, Brudno, Brunner, Clayton-Smith, Cogné, Dawkins, deVries, Douzgou, Dudding-Byth, Eichler, Ferlaino, Fieggen, Firth, FitzPatrick ...doi:10.3389/fgene.2019.00611 pmid:31417602 pmcid:PMC6681681 fatcat:w6pc7y23vjg2lbhmlbpd7ntrkm
Dawkins, Maverick. Maverick. Child. Hurd. Dawkins. Callender. Hurd. H. Morse. Callender. Revere. Hurd. Maverick. s. Hurd. Mass. it Mass. ... Cooper, Myles Courtenay, Henry Curwen Cutting, James S. Dana, ‘rancis “ — Richard H. ...
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