Results 91 to 100 of about 585,411 (243)

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey   +2 more
doaj  

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data. [PDF]

Hum Mutat, 2021
Scelsi HF, Barlow BM, Saccuzzo EG, Lieberman RL.   +3 more
europepmc   +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

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

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis. [PDF]

Ann Transl Med, 2021
Hu X, Guan J, Wang Y, Shi S, Song C, Li ZP, Feng ST, Chen J, Luo Y.   +8 more
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

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K_ATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. [PDF]

Front Endocrinol (Lausanne), 2021
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC.   +10 more
europepmc   +1 more source

A Multi-View Ensemble Classification Model for Clinically Actionable Genetic Mutations [PDF]

arXiv, 2018
This paper presents details of our winning solutions to the task IV of NIPS 2017 Competition Track entitled Classifying Clinically Actionable Genetic Mutations. The machine learning task aims to classify genetic mutations based on text evidence from clinical literature with promising performance. We develop a novel multi-view machine learning framework
arxiv  

Robust acute myeloid leukemia engraftment in humanized scaffolds using injectable biomaterials and intravenous xenotransplantation

Molecular Oncology, EarlyView.
Patient‐derived xenografts (PDXs) can be improved by implantation of a humanized niche. We tested different biomaterials and approaches, and demonstrate that the combination of an injectable biomaterial for scaffold creation plus an intravenous route for acute myeloid leukemia (AML) xenotransplantation provide the most convenient and robust approach to
Daniel Busa, Zdenka Herudkova, Jan Hyl, Jakub Vlazny, Filip Sokol, Kvetoslava Matulova, Adam Folta, Jakub Hynst, Lucy Vojtova, Leos Kren, Martin Repko, Zdenek Racil, Jiri Mayer, Martin Culen   +13 more
wiley   +1 more source