Results 161 to 170 of about 591,252 (334)

Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics

Molecular Oncology, EarlyView.
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen, Pieter‐Jan Volders, Ellen Geerdens, Severine Berden, Joni Van der Meulen, Aaron De Cock, Stefanie Vermeire, Jacques Van Huysse, Marie de Barsy, Gabriela Beniuga, Wendy W. J. de Leng, Anne M. L. Jansen, Imke Demers, Zeliha Ozgur, Hendrikus Jan Dubbink, Ernst‐Jan M. Speel, Wilfred F. J. van IJcken, Brigitte Maes   +17 more
wiley   +1 more source

Integrating clinical genetics in cardiology: Current practices and recommendations for education. [PDF]

Genet Med, 2022
Scherr CL, Kalke K, Ramesh S, Fakhari H, Dellefave-Castillo LM, Smith ME, Kalny C, McNally EM, Rasmussen-Torvik LJ.   +8 more
europepmc   +1 more source

Comparative Performance of Machine Learning Algorithms for Early Genetic Disorder and Subclass Classification [PDF]

arXiv
A great deal of effort has been devoted to discovering a particular genetic disorder, but its classification across a broad spectrum of disorder classes and types remains elusive. Early diagnosis of genetic disorders enables timely interventions and improves outcomes.
arxiv  

Clinical genetics [PDF]

, 1995
Ann Blair
openalex   +1 more source

Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes

Molecular Oncology, EarlyView.
Epithelial–mesenchymal transition (EMT) and tumor‐infiltrating lymphocytes (TILs) are associated with early breast cancer response to neoadjuvant chemotherapy (NAC). This study evaluated EMT and TIL shifts, with immunofluorescence and RNA sequencing, at diagnosis and in residual tumors as potential biomarkers associated with treatment response.
Françoise Derouane, Jérôme Ambroise, Cédric van Marcke, Mieke Van Bockstal, Martine Berlière, Christine Galant, Hélène Dano, Médina Lougué, Elena Benidovskaya, Guy Jerusalem, Vincent Bours, Claire Josse, Jérôme Thiry, Aurélie Daumerie, Caroline Bouzin, Cyril Corbet, François P. Duhoux   +16 more
wiley   +1 more source

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study. [PDF]

BMC Med Genomics, 2022
Veatch OJ, Steinle J, Hossain WA, Butler MG.   +3 more
europepmc   +1 more source

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

Molecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas, Konstantinos Voutetakis, Vivian Kosmidou, Spyridon Tsikalakis, Spyridon Roditis, Konstantinos Pateas, Ryangguk Kim, Kymberleigh Pagel, Stephan Wolf, Gregor Warsow, Antonia Dimitrakopoulou‐Strauss, Georgios N. Zografos, Alexander Pintzas, Johannes Betge, Olga Papadodima, Stefan Wiemann   +15 more
wiley   +1 more source

Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2022". [PDF]

Hered Cancer Clin Pract, 2023
europepmc   +1 more source

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population. [PDF]

Biomedicines, 2022
Martínez-Barrios E, Cesar S, Cruzalegui J, Hernandez C, Arbelo E, Fiol V, Brugada J, Brugada R, Campuzano O, Sarquella-Brugada G.   +9 more
europepmc   +1 more source

Perspective of clinical genetics.

Journal of Nippon Medical School, 1999
Atushi Watanabe, Takashi Shimada, Yuko Watanabe, Makoto Migita   +3 more
openaire   +3 more sources