AIMC Topic: DNA Mutational Analysis

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Annotation-Free Deep Learning-Based Prediction of Thyroid Molecular Cancer Biomarker BRAF (V600E) from Cytological Slides.

International journal of molecular sciences Jan 28, 2023
Thyroid cancer is the most common endocrine cancer. Papillary thyroid cancer (PTC) is the most prevalent form of malignancy among all thyroid cancers arising from follicular cells. Fine needle aspiration cytology (FNAC) is a non-invasive method regar...
Humans Precision Medicine DNA Mutational Analysis Carcinoma, Papillary Thyroid Cancer, Papillary Biomarkers, Tumor Proto-Oncogene Proteins B-raf Deep Learning Thyroid Neoplasms Mutation
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Deep Unfolding for Non-Negative Matrix Factorization with Application to Mutational Signature Analysis.

Journal of computational biology : a journal of computational molecular cell biology Jan 5, 2022
Non-negative matrix factorization (NMF) is a fundamental matrix decomposition technique that is used primarily for dimensionality reduction and is increasing in popularity in the biological domain. Although finding a unique NMF is generally not possi...
Supervised Machine Learning DNA Mutational Analysis Computational Biology Databases, Genetic Unsupervised Machine Learning Humans Mutation Neural Networks, Computer Algorithms Computer Simulation Female Breast Neoplasms Deep Learning
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Predicting mutant outcome by combining deep mutational scanning and machine learning.

Proteins Jul 31, 2021
Deep mutational scanning provides unprecedented wealth of quantitative data regarding the functional outcome of mutations in proteins. A single experiment may measure properties (eg, structural stability) of numerous protein variants. Leveraging the ...
Algorithms Protein Interaction Maps Computational Biology Models, Statistical Machine Learning Proteins Mutation High-Throughput Nucleotide Sequencing DNA Mutational Analysis
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The impact of site-specific digital histology signatures on deep learning model accuracy and bias.

Nature communications Jul 20, 2021
The Cancer Genome Atlas (TCGA) is one of the largest biorepositories of digital histology. Deep learning (DL) models have been trained on TCGA to predict numerous features directly from histology, including survival, gene expression patterns, and dri...
Humans Biomarkers, Tumor Risk Assessment Neoplasms Specimen Handling Neoplasm Staging Mutation Data Accuracy DNA Mutational Analysis Gene Expression Profiling Deep Learning Image Processing, Computer-Assisted
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Generative adversarial network for glioblastoma ensures morphologic variations and improves diagnostic model for isocitrate dehydrogenase mutant type.

Scientific reports May 10, 2021
Generative adversarial network (GAN) creates synthetic images to increase data quantity, but whether GAN ensures meaningful morphologic variations is still unknown. We investigated whether GAN-based synthetic images provide sufficient morphologic var...
Datasets as Topic DNA Mutational Analysis Isocitrate Dehydrogenase Male Middle Aged Deep Learning Contrast Media Magnetic Resonance Imaging Glioblastoma Feasibility Studies Image Interpretation, Computer-Assisted Female Aged Adult Brain Neoplasms Humans Brain Retrospective Studies
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Digital/Computational Technology for Molecular Cytology Testing: A Short Technical Note with Literature Review.

Acta cytologica Apr 30, 2021
This short article describes the method of digital cytopathology using Z-stack scanning with or without extended focusing. This technology is suitable to observe such thick clusters as adenocarcinoma on cytologic specimens. Artificial intelligence (A...
Mutation DNA Mutational Analysis ErbB Receptors Adenocarcinoma of Lung Pathology, Molecular Humans Image Processing, Computer-Assisted Artificial Intelligence Lung Neoplasms Molecular Diagnostic Techniques Predictive Value of Tests Automation, Laboratory Reproducibility of Results Diagnosis, Computer-Assisted
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Histopathological characteristics and artificial intelligence for predicting tumor mutational burden-high colorectal cancer.

Journal of gastroenterology Apr 28, 2021
BACKGROUND: Tumor mutational burden-high (TMB-H), which is detected with gene panel testing, is a promising biomarker for immune checkpoint inhibitors (ICIs) in colorectal cancer (CRC). However, in clinical practice, not every patient is tested for T...
Humans Artificial Intelligence Colorectal Neoplasms Mutation Japan DNA Mutational Analysis Pathology
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Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers.

Circulation. Arrhythmia and electrophysiology Jan 5, 2021
BACKGROUND: ECG interpretation requires expertise and is mostly based on physician recognition of specific patterns, which may be challenging in rare cardiac diseases. Deep neural networks (DNNs) can discover complex features in ECGs and may facilita...
Humans Calcium-Binding Proteins Retrospective Studies Female DNA Adult Mutation Male Heart Diseases Deep Learning DNA Mutational Analysis Electrocardiography
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A Deep Learning Framework Identifies Pathogenic Noncoding Somatic Mutations from Personal Prostate Cancer Genomes.

Cancer research Sep 9, 2020
Our understanding of noncoding mutations in cancer genomes has been derived primarily from mutational recurrence analysis by aggregating clinical samples on a large scale. These cohort-based approaches cannot directly identify individual pathogenic n...
Humans Male Deep Learning DNA Mutational Analysis Carcinogenesis Genome Prostatic Neoplasms Mutation
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Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?

Heart rhythm Sep 8, 2020
BACKGROUND: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool us...
Arrhythmogenic Right Ventricular Dysplasia Reproducibility of Results Cardiologists Young Adult Computers DNA Adult Middle Aged Mutation Phenotype Male Humans Clinical Competence DNA Mutational Analysis Retrospective Studies Machine Learning Adolescent Calcium-Binding Proteins Female Algorithms Electrocardiography
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