AIMC Topic: DNA Mutational Analysis

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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.
Predictive Value of Tests Prostatic Neoplasms Deep Learning Genetic Predisposition to Disease DNA Mutational Analysis Germ-Line Mutation Genetic Testing High-Throughput Nucleotide Sequencing Male Middle Aged Sensitivity and Specificity Cross-Sectional Studies Female Humans Melanoma Neural Networks, Computer
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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...
Genetic Testing SEER Program Mutation Registries ErbB Receptors Anaplastic Lymphoma Kinase DNA Mutational Analysis Kentucky Lung Neoplasms Carcinoma, Non-Small-Cell Lung Population Surveillance Natural Language Processing Male Middle Aged Adult Algorithms Humans Female Machine Learning Reproducibility of Results Aged
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Machine learning spots natural selection at work in human genome.

Nature Nov 1, 2018
Milk DNA Mutational Analysis Genome, Human Selection, Genetic Europe History, Ancient Humans Evolution, Molecular Lactase 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...
Biopsy, Fine-Needle DNA, Neoplasm High-Throughput Nucleotide Sequencing DNA Mutational Analysis RNA, Neoplasm Thyroid Nodule Machine Learning Oligonucleotide Array Sequence Analysis Computational Biology Gene Expression Profiling Proto-Oncogene Proteins B-raf Support Vector Machine Humans Mutation
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