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Intelligent DNA-based molecular diagnostics using linked genetic markers

D K Pathak, E P Hoffman, M W Perlin
1994 Proceedings. International Conference on Intelligent Systems for Molecular Biology  
This paper describes a knowledge-based system for molecular diagnostics, and its application to fully automated diagnosis of X-linked genetic disorders.  ...  Our system uses knowledge-based interpretation of gel electrophoresis images to determine individual DNA marker labels, a constraint satisfaction search for consistent genetic flow among individuals, and  ...  ISMB-94 Using the System for Automated Diagnosis In this section we describe a complete example of the use of our intelligent molecular diagnostics system for genetic counseling a family with DMD.  ... 
pmid:7584409 fatcat:hdvjvpfitvaurlr2fnxkqy7jsy

Introduction to DNA-Based Genetic Diagnostics

R M Glickman, M A Phillips, B W Glickman
1988 Canadian Family Physician  
Molecular biology and recombinant DNA technology are beginning to have an effect on the medical health care field, particularly in the area of clinical genetics.  ...  The general practitioner, along with his genetic diagnostic colleagues, can soon expect to have access to accurate and reliable diagnostic assays for a wide variety of genetic disorders.  ...  Exploiting the molecular-based technology, researchers are quickly developing an extensive repertoire ofdiseases amenable to molecular diagnosis.2' 3 In addition, DNA-based diagnostic services developed  ... 
pmid:21253094 pmcid:PMC2218974 fatcat:hbgwubv775h2fnqma56sdp64gi

Molecular genetics in clinical practice: evolution of a DNA diagnostic service

A. L. Meredith, M. Upadhyaya, P. S. Harper
1988 BMJ (Clinical Research Edition)  
We thank the collaborating groups at St Mary's Hospital, Manchester, and the Institute of Child Health, London, and all our colleagues in the Institute of Medical Genetics for their help during this work  ...  Dr N S T Thomas supplied data on the X linked muscular dystrophies, while Drs L Al-Jader, A Norman, 0 Quarrell, and A Fryer helped with the clinical evaluation and counselling of families.  ...  A register of affected people and individuals at risk has been kept in Wales for the past 15 years,'3 but diagnostic application of linked DNA markers has been confined to the use since early 1987 of "  ... 
doi:10.1136/bmj.297.6652.843 pmid:2972330 pmcid:PMC1834587 fatcat:656npvzzpnczjpufummz6rrbfe

Artificial Intelligence, Radiomics, and Deep Learning in Neuro-Oncology

Norbert Galldiks, Gelareh Zadeh, Philipp Lohmann
2020 Neuro-Oncology Advances  
of molecular markers.  ...  For example, combined PET/ MRI radiomics allow the non-invasive prediction of molecular markers such as the O 6 -methylguanine-DNA-methyltransferase promoter methylation status or the alpha thalassemia  ... 
doi:10.1093/noajnl/vdaa179 pmid:33521635 pmcid:PMC7829469 fatcat:2jlkg734yzf6djafnwprt724de

Use of DNA probes for diagnosis and prevention of inherited disorders

1987 European Journal of Clinical Investigation  
Random DNA markers as diagnostic tools The idea of employing closely linked genetic markers as diagnostic labels for genetic defects was put forward long before the advent of Recombinant DNA tech- nology  ...  Moreover, because of the rapid elimination of new mutations in X-linked lethal disorders, family sizes tend to be small, which further limits the use of linked diagnostic markers in this group of diseases  ... 
doi:10.1111/j.1365-2362.1987.tb01145.x pmid:3123246 fatcat:t4w532xwjfbyzdzjnjpvn2rzhe

Advancing leukemia diagnostics: Role of Next Generation Sequencing (NGS) in acute myeloid leukemia

Torsten Haferlach
2020 Hematology Reports  
AML diagnostics, initially based solely on morphological evaluation, now relies on multiple disciplines to reach its full potential.  ...  Especially molecular genetics has gained a lot of interest over the last decade, mainly through the introduction of next generation sequencing (NGS).  ...  Obligatory mutational analysis at diagnosis. can be used to identify potential MRD markers, and PCR-based approaches are subsequently used for their quantification.  ... 
doi:10.4081/hr.2020.8957 pmid:33042506 pmcid:PMC7520852 fatcat:ajhzzh54bngq5oeyacnzcbjmqq

Diagnostic omics based molecular techniques in oral pathology: Current perspectives and future prospects

Bijo Alexander, Oral Pathology and Microbiology
2019 Journal of Oral Medicine Oral Surgery Oral Pathology and Oral Radiology  
Omics based molecular techniques can be accurately used for diagnosis, prognosis, risk analysis and treatment of various oral lesions especially oral cancer.  ...  Like other fields of medicine, oral pathology also tends to show a paradigm shift from conventional diagnostic techniques to a molecular based format.  ...  Omics based Diagnostic Techniques Genomics Cancer based genomics is a rapidly growing discipline in which the genetic molecular basis of malignancy is studied at the scale of whole genomes and successfully  ... 
doi:10.18231/j.jooo.2019.015 fatcat:hgc3wlvolvbejml2tbtynacf7u

Genetic microbial faecal source tracking: rising technology to support future water quality testing and safety management

Sophia D. Steinbacher, Domenico Savio, Katalin Demeter, Martin Karl, Wolfgang Kandler, Alexander K. T. Kirschner, Georg H. Reischer, Simone K. Ixenmaier, René E. Mayer, Robert L. Mach, Julia Derx, Regina Sommer (+2 others)
2021 Österreichische Wasser- und Abfallwirtschaft  
In conclusion, this study illustrates the capacity of molecular faecal pollution diagnostics to revolutionize water quality testing in the decades to come.  ...  Genetic MST marker resistance against UV irradiation was evaluated in on-site ground and wastewater treatment installations.  ...  Building up sample banks for post hoc molecular diagnostics proved very useful for several MST and genetic investigations (Mayer et al. 2018; Savio et al. 2015) .  ... 
doi:10.1007/s00506-021-00811-y fatcat:uekgw3xx3vg6zkkdl6qbrmpixi

Uncharted waters

Philip Hunter
2018 EMBO Reports  
Epigenetic markers yield information Accurate genetic markers of age have proved elusive, but recent analysis using MPS to identify relevant epigenetic DNA methylation patterns has yielded some promising  ...  "The major challenge for DNA 'forensic intelligence' is safeguarding genetic privacy", McNevin explained.  ... 
doi:10.15252/embr.201845810 pmid:29437774 pmcid:PMC5836095 fatcat:ovibjccy5zhwhdqerybsunzabi

Abstracts of the meeting of the Clinical Genetics Society held on 22 and 23 September 1988 at the University of Aberdeen

1989 Journal of Medical Genetics  
This case also illustrates one of the weaknesses of carrying out predictive testing using DNA markers (G8 and subclones) which have an appreciable recombination rate with the HD gene.  ...  This work is part of our active programme for developing the PCR technique as a diagnostic tool for use in regional molecular genetics laboratories as well as a research tool.  ...  The successive stages in development of the molecular genetics diagnostic service in Cardiff over a three year period are described.  ... 
doi:10.1136/jmg.26.3.207 fatcat:ep3c5likqra4fdjn2ojp5skoea

Laboratory techniques in molecular genetics

1996 Journal of Medical Genetics  
multifactorial disease, and combined with the increasing availability of well-characterised families for genetic studies, the link between the clinician and molecular geneticists is being dramatically  ...  FISH analysis using the SNRPN probe did not show a 15q deletion. DNA methylation studies were performed using the probe PW71B.  ... 
doi:10.1136/jmg.33.suppl_1.s50 fatcat:cmjnmxp2nnezljoy6s2pjqknje

Machine Learning Approach for Identification of Diseases through Gene Mapping

Shalmalee Belapurkar
2019 International Journal for Research in Applied Science and Engineering Technology  
Genetic mapping is based on the use of Genetic Techniques to construct maps showing the positions of genes and other sequence features on genome.  ...  Machine learning focuses on the development of computer programs that can access data and use it to learn for themselves.  ...  [8] Genetic mapping is based on the use of Genetic Techniques to construct maps showing the positions of genes and other sequence features on genome.  ... 
doi:10.22214/ijraset.2019.5112 fatcat:wnyt6hiaovaxhe4fsvhwgpnv3y

X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping

Devin Dressman, Mary Ellen Ahearn, Kemal O Yariz, Hugo Basterrecha, Francisco Martínez, Francesc Palau, M Michael Barmada, Robin Dawn Clark, Alfons Meindl, Brunhilde Wirth, Eric P Hoffman, Lisa Baumbach-Reardon
2007 Genetics in Medicine  
Genet Med 2007:9(1):52-60.  ...  Methods: We first investigated linkage to the candidate disease gene region using microsatellite repeat markers.  ...  The region of the X-chromosome linked in this family is larger than that previously defined by our group, 1 due to choice of DNA markers used in these studies.  ... 
doi:10.1097/gim.0b013e31802d8353 pmid:17224690 fatcat:xrmwpbbpgzce7ntxm2zt7lqwvq

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

N Kaminen
2003 Journal of Medical Genetics  
The genetic aetiology of dyslexia is heterogeneous and loci on chromosomes 2, 3, 6, 15, and 18 have been repeatedly linked to it.  ...  These families were selected from about 140 17 based on their informativeness for linkage.  ...  In case of poor amplification, the DNA polymerases AmpliTaq Gold (Perkin Elmer, Roche Molecular Systems Inc) or DyNAzyme EXT (Finnzymes) were used in similar conditions.  ... 
doi:10.1136/jmg.40.5.340 pmid:12746395 pmcid:PMC1735449 fatcat:mvu7e4bohnbivauxcahhs3usbi

Abstracts of the meeting of the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 30 and 31 March 1989 at the University of Southampton

1989 Journal of Medical Genetics  
Predictive testing using linked DNA markers is now offered to adults at risk for Huntington's chorea through our genetic register.  ...  Clinical application of predictive testing for Huntington's chorea using linked DNA markers D CRAUFURD, L KERZIN-STORRAR, A DODGE, AND R HARRIS Departments of Psychiatry and Medical Genetics, University  ... 
doi:10.1136/jmg.26.9.592 fatcat:ialz7rt44fegjpkmeiu4vexmbq
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