AIMC Topic: DNA Mutational Analysis

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Deep learning-based analysis of EGFR mutation prevalence in lung adenocarcinoma H&E whole slide images.

The journal of pathology. Clinical research Nov 1, 2024
EGFR mutations are a major prognostic factor in lung adenocarcinoma. However, current detection methods require sufficient samples and are costly. Deep learning is promising for mutation prediction in histopathological image analysis but has limitati...
Deep Learning Lung Neoplasms Humans Female DNA Mutational Analysis ErbB Receptors Adenocarcinoma of Lung Mutation Image Interpretation, Computer-Assisted
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Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.

JAMA Nov 17, 2020
IMPORTANCE: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.
Humans Neural Networks, Computer Sensitivity and Specificity Cross-Sectional Studies Male Female Melanoma Prostatic Neoplasms Genetic Testing DNA Mutational Analysis Genetic Predisposition to Disease Germ-Line Mutation Middle Aged Predictive Value of Tests High-Throughput Nucleotide Sequencing Deep Learning
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Validity of Natural Language Processing for Ascertainment of and Test Results in SEER Cases of Stage IV Non-Small-Cell Lung Cancer.

JCO clinical cancer informatics May 1, 2019
PURPOSE: SEER registries do not report results of epidermal growth factor receptor () and anaplastic lymphoma kinase () mutation tests. To facilitate population-based research in molecularly defined subgroups of non-small-cell lung cancer (NSCLC), we...
ErbB Receptors Anaplastic Lymphoma Kinase Registries Genetic Testing DNA Mutational Analysis Humans Kentucky SEER Program Natural Language Processing Mutation Aged Adult Female Carcinoma, Non-Small-Cell Lung Middle Aged Machine Learning Lung Neoplasms Reproducibility of Results Population Surveillance Male Algorithms
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Machine learning spots natural selection at work in human genome.

Nature Nov 1, 2018
Genome, Human Selection, Genetic Lactase History, Ancient Milk DNA Mutational Analysis Europe Evolution, Molecular Humans Animals Deep Learning
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Machine learning from concept to clinic: reliable detection of BRAF V600E DNA mutations in thyroid nodules using high-dimensional RNA expression data.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing Jan 1, 2015
The promise of personalized medicine will require rigorously validated molecular diagnostics developed on minimally invasive, clinically relevant samples. Measurement of DNA mutations is increasingly common in clinical settings but only higher-preval...
Computational Biology DNA, Neoplasm Support Vector Machine Oligonucleotide Array Sequence Analysis Gene Expression Profiling Mutation Proto-Oncogene Proteins B-raf DNA Mutational Analysis High-Throughput Nucleotide Sequencing Thyroid Nodule RNA, Neoplasm Humans Biopsy, Fine-Needle Machine Learning
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