A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis. [PDF]
Ann Transl Med, 2021 Hu X +8 more
europepmc +1 more source
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
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 +16 more
wiley +1 more source
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. [PDF]
Front Endocrinol (Lausanne), 2021 Ngoc CTB +10 more
europepmc +1 more source
Integrating Large Language Models for Genetic Variant Classification [PDF]
arXivThe classification of genetic variants, particularly Variants of Uncertain Significance (VUS), poses a significant challenge in clinical genetics and precision medicine. Large Language Models (LLMs) have emerged as transformative tools in this realm. These models can uncover intricate patterns and predictive insights that traditional methods might miss,
arxiv
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
Abstracts of the meeting of the Clinical Genetics Society held on 5 and 6 April 1984 at Salford University, Manchester [PDF]
, 1984 openalex +1 more source
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 +3 more
wiley +1 more source
Disorders of sex development (DSD): an overview of recent scientific advances [PDF]
, 2014 Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
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