Results 11 to 20 of about 675,403 (292)
Advances in Medical Education and Practice, 2021 Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj
ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics [PDF]
arXiv, 2021 High annotation costs are a substantial bottleneck in applying modern deep learning architectures to clinically relevant medical use cases, substantiating the need for novel algorithms to learn from unlabeled data. In this work, we propose ContIG, a self-supervised method that can learn from large datasets of unlabeled medical images and genetic data ...
arxiv
Exploration of strengthening the cultivation of ethical quality in the construction of medical genetics course [PDF]
Jichu yixue yu linchuang, 2020 With the completion of the human genome project and the advancement of sequencing technology, the ethical issues involved in medical genetics have become increasingly prominent. This requires the integration of ethical and other ideological elements into
MI Ya-jing, ZHANG Ni, FENG Hao, LIU Jie, GOU Xing-chun, JING Xiao-hong
doaj
Medical genetics of ciliopathies
Journal of Pediatric Genetics, 2015 Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire +5 more sources
Immune-mediated genesis of multiple sclerosis
Journal of Translational Autoimmunity, 2020 Multiple sclerosis (MS) is widely acknowledged to be an autoimmune disease affecting the neuronal myelin structure of the CNS. Autoantigens recognized as the target of this autoimmune process are: myelin basal protein, anti-proteolipid protein ...
Salvatore Cavallo, MD, Specialist in Medical Genetics
doaj
F1000Research, 2017 Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos +18 more
doaj +1 more source
F1000Research, 2017 With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai +3 more
doaj +1 more source
Privacy with Good Taste: A Case Study in Quantifying Privacy Risks in Genetic Scores [PDF]
arXiv, 2022 Analysis of genetic data opens up many opportunities for medical and scientific advances. The use of phenotypic information and polygenic risk scores to analyze genetic data is widespread. Most work on genetic privacy focuses on basic genetic data such as SNP values and specific genotypes. In this paper, we introduce a novel methodology to quantify and
arxiv
A simulations approach for meta-analysis of genetic association studies based on additive genetic model [PDF]
, 2016 Genetic association studies are becoming an important component of medical research. To cite one instance, pharmacogenomics which is gaining prominence as a useful tool for personalized medicine is heavily reliant on results from genetic association studies.
arxiv +1 more source
Genetic InfoMax: Exploring Mutual Information Maximization in High-Dimensional Imaging Genetics Studies [PDF]
arXiv, 2023 Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits. When applied to high-dimensional medical imaging data, a key step is to extract lower-dimensional, yet informative representations of the data as traits.
arxiv