Results 51 to 60 of about 10,016,032 (374)

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

Journal of Clinical Medicine, 2020
Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care ...
R. Pereira, J. Oliveira, M. Sousa
semanticscholar   +1 more source

More on Clinical Renal Genetics [PDF]

Clinical Journal of the American Society of Nephrology, 2010
Epidemiologic studies of rare diseases may produce surprising findings and raise ethical issues. This is illustrated in this study performed in 171,977 consecutive Taiwanese newborns (including 90,288 boys) from July 2006 through June 2008 by measuring dry blood spot and then leukocyte -galactosidase A ( -Gal A) activities and finally by detecting ...
Grunfeld, J.P., Hwu, W., Chien, Y., Lee, N., Chiang, S., Dobrovolny, R., Huang, A., Yeh, H., Chao, M., Lin, S., Kitagawa, T., Desnick, R., Hsu, L., Keimpema, L. van, Nevens, F., Vanslembrouck, R., Oijen, G. Van, Hoffmann, A., Dekker, H., Man, R. de, Drenth, J.P.H., Alamovitch, S., Plaisier, E., Favrole, P., Prost, C., Chen, Z., Agrmael, T. Van, Marro, B., Ronco, P., Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., Sovova, J., Claes, K., Lerut, E., Fryns, J.P., Hart, P. t, Hart, T., Adams, J., Pawtowski, A., Clemessy, M., Gasc, J., Gubler, M., Antignac, C., Elleder, M., Kapp, K., Grimbert, P., Bleyer, A., Kmoch, S., Brown, E., Schlondorff, J., Becker, D.J., Tsukaguchi, H., Uschinski, A., Higgs, H., Henderson, J., Pollak, M.   +65 more
openaire   +6 more sources

Portrayal of psychiatric genetics in Australian print news media, 1996-2009 [PDF]

, 2011
Objective: To investigate how Australian print news media portray psychiatric genetics. Design and setting: Content and framing analysis of a structured sample of print news items about psychiatric genetics published in Australian newspapers between 1996
Bonfiglioli, C, Meiser, B, Mitchell, PB, Schofield, PR, Wilde, A   +4 more
core   +1 more source

Genetic risk model for in-stent restenosis of second-and third-generation drug-eluting stents

iScience, 2021
Summary: The new generation, i.e., second- and third-generation, drug-eluting stents (DESs) remain a risk of in-stent restenosis (ISR). We evaluated the power of a genetic risk score (GRS) model to identify high-risk populations for new generation DES ...
Yen-Wen Liu, Mu-Shiang Huang, Ling-Wei Hsu, Hsien-Yuan Chang, Cheng-Han Lee, Chi-Ying Lee, Dao-Peng Chen, Yi-Heng Li, Ting-Hsin Chao, Pei-Fang Su, Meng-Ru Shen, Ping-Yen Liu   +11 more
doaj   +1 more source

Diagnostic Testing in Epilepsy Genetics Clinical Practice

, 2017
Changing landscape of epilepsy genetic testing gives vast opportunities to both patients and clinicians. Significance of precise genetic diagnosis in patients affected by epilepsy cannot be overestimated: it not only gives the opportunities of ...
Birutė Tumienė, A. Utkus, V. Kučinskas, A. Maver, B. Peterlin   +4 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

Genetics in Clinical Trials [PDF]

, 2009
Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F. Meschia, Katrina Gwinn
openaire   +3 more sources

The role of the genetic counsellor: a systematic review of research evidence [PDF]

, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser, C Bennett, C Cordier, C James, Caroline Benjamin, Charlotta Ingvoldstad, Christophe Cordier, D Roter, E Pergament, E Smets, H Skirton, Heather Skirton, J Hartley, J Hodgson, J Ingles, JGR Kromberg, JGR Kromberg, KA Hines, KP Powell, L Ellington, LM Kmet, Nicolas Taris, P McCarthy-Veach, R Resta, RG Resta, SJ Lepore, V Braun, V Hannig   +27 more
core   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

APOL1 Nephropathy: From Genetics to Clinical Applications.

American Society of Nephrology. Clinical Journal, 2020
Rates of many types of severe kidney disease are much higher in blacks than most other groups. Much of this disparity can now be attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry.
D. Friedman, M. Pollak
semanticscholar   +1 more source