Results 111 to 120 of about 591,252 (334)

Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. [PDF]

, 1989
John R.W. Yates, S Malcolm, Andrew Read
openalex   +1 more source

Addressing persistent challenges in digital image analysis of cancer tissue: resources developed from a hackathon

Molecular Oncology, EarlyView.
Large multidimensional digital images of cancer tissue are becoming prolific, but many challenges exist to automatically extract relevant information from them using computational tools. We describe publicly available resources that have been developed jointly by expert and non‐expert computational biologists working together during a virtual hackathon
Sandhya Prabhakaran, Clarence Yapp, Gregory J. Baker, Johanna Beyer, Young Hwan Chang, Allison L. Creason, Robert Krueger, Jeremy Muhlich, Nathan Heath Patterson, Kevin Sidak, Damir Sudar, Adam J. Taylor, Luke Ternes, Jakob Troidl, Xie Yubin, Artem Sokolov, Darren R. Tyson   +16 more
wiley   +1 more source

Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
doaj  

Molecular genetics in clinical practice: evolution of a DNA diagnostic service. [PDF]

, 1988
Andrea L. Meredith, Meena Upadhyaya, Peter S. Harper   +2 more
openalex   +1 more source

Impact of molecular diagnostics and targeted cancer therapy on patient outcomes (MODIFY): a retrospective study of the implementation of precision oncology

Molecular Oncology, EarlyView.
The authors conducted a retrospective study of 94 patients with advanced cancer who underwent next‐generation sequencing (NGS) gene panel analysis and received targeted treatments when applicable. Results further support evidence indicating that molecular profiling provides clinical benefit.
Michaël Dang, Anna Schritz, Nikolai Goncharenko, Guy Berchem   +3 more
wiley   +1 more source

Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics. [PDF]

Audiol Res, 2023
Dallapiccola B, Mingarelli R.
europepmc   +1 more source

Prompting Whole Slide Image Based Genetic Biomarker Prediction [PDF]

arXiv
Prediction of genetic biomarkers, e.g., microsatellite instability and BRAF in colorectal cancer is crucial for clinical decision making. In this paper, we propose a whole slide image (WSI) based genetic biomarker prediction method via prompting techniques.
arxiv  

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

Federated generalized linear mixed models for collaborative genome-wide association studies

iScience, 2023
Summary: Federated association testing is a powerful approach to conduct large-scale association studies where sites share intermediate statistics through a central server. There are, however, several standing challenges.
Wentao Li, Han Chen, Xiaoqian Jiang, Arif Harmanci   +3 more
doaj  

The New Genetics and Clinical Practice. By J. Weatherall. Oxford: Oxford University Press. 206 pages. 1986. £8.95. ISBN 0 19 261489 4. [PDF]

, 1986
Eric Reeve
openalex   +1 more source