AIMC Topic: Mutation

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[Prediction of gene mutation in lung cancer based on deep learning and histomorphology analysis].

Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi Feb 25, 2020
Lung cancer is a most common malignant tumor of the lung and is the cancer with the highest morbidity and mortality worldwide. For patients with advanced non-small cell lung cancer who have undergone epidermal growth factor receptor (EGFR) gene mutat...
Deep Learning Lung Neoplasms Carcinoma, Non-Small-Cell Lung Mutation ErbB Receptors Humans
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SomaticSeq: An Ensemble and Machine Learning Method to Detect Somatic Mutations.

Methods in molecular biology (Clifton, N.J.) Jan 1, 2020
A standard strategy to discover somatic mutations in a cancer genome is to use next-generation sequencing (NGS) technologies to sequence the tumor tissue and its matched normal (commonly blood or adjacent normal tissue) for side-by-side comparison. H...
Mutation High-Throughput Nucleotide Sequencing Genome, Human Humans Machine Learning Software Neoplasms Genomics
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Ensemble-Based Somatic Mutation Calling in Cancer Genomes.

Methods in molecular biology (Clifton, N.J.) Jan 1, 2020
Identification of somatic mutations in tumor tissue is challenged by both technical artifacts, diverse somatic mutational processes, and genetic heterogeneity in the tumors. Indeed, recent independent benchmark studies have revealed low concordance b...
Software Neoplasms Genomics Polymorphism, Single Nucleotide Mutation Humans Supervised Machine Learning Genome, Human INDEL Mutation Point Mutation
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Risk stratification of cervical lesions using capture sequencing and machine learning method based on HPV and human integrated genomic profiles.

Carcinogenesis Oct 16, 2019
From initial human papillomavirus (HPV) infection and precursor stages, the development of cervical cancer takes decades. High-sensitivity HPV DNA testing is currently recommended as primary screening method for cervical cancer, whereas better triage...
Humans Papillomavirus Infections DNA Copy Number Variations Mutation Uterine Cervical Dysplasia Machine Learning Uterine Cervical Neoplasms Papillomaviridae Prognosis Risk Assessment Female China Carcinoma, Squamous Cell Incidence Genomics
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Prediction of IDH genotype in gliomas with dynamic susceptibility contrast perfusion MR imaging using an explainable recurrent neural network.

Neuro-oncology Sep 6, 2019
BACKGROUND: The aim of this study was to predict isocitrate dehydrogenase (IDH) genotypes of gliomas using an interpretable deep learning application for dynamic susceptibility contrast (DSC) perfusion MRI.
Brain Neoplasms Male Middle Aged Deep Learning ROC Curve Neural Networks, Computer Female Aged Adult Area Under Curve Mutation Magnetic Resonance Angiography Isocitrate Dehydrogenase Image Processing, Computer-Assisted Genotype Glioma Contrast Media Magnetic Resonance Imaging Humans
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Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.

Investigative ophthalmology & visual science Jun 3, 2019
PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for funct...
Visual Field Tests Cytoskeletal Proteins Genetic Therapy Cell Cycle Proteins Color Vision Defects Retinal Cone Photoreceptor Cells Calmodulin-Binding Proteins Leber Congenital Amaurosis Retinitis Pigmentosa Antigens, Neoplasm Neoplasm Proteins Tomography, Optical Coherence Mutation Visual Fields Adult Male Middle Aged Adolescent Humans Machine Learning Female Young Adult
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DriverML: a machine learning algorithm for identifying driver genes in cancer sequencing studies.

Nucleic acids research May 7, 2019
Although rapid progress has been made in computational approaches for prioritizing cancer driver genes, research is far from achieving the ultimate goal of discovering a complete catalog of genes truly associated with cancer. Driver gene lists predic...
Mutation Datasets as Topic Monte Carlo Method Humans Cell Cycle Proteins Atlases as Topic Oncogenes Gene Expression Regulation, Neoplastic Machine Learning Cell Proliferation Software Nuclear Proteins Neoplasms Cell Movement Cell Line, Tumor Neoplasm Proteins
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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...
Natural Language Processing Mutation Registries Genetic Testing SEER Program Male DNA Mutational Analysis Humans Middle Aged Kentucky Female Machine Learning Lung Neoplasms ErbB Receptors Reproducibility of Results Algorithms Carcinoma, Non-Small-Cell Lung Anaplastic Lymphoma Kinase Aged Population Surveillance Adult
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Machine learning-based predictors for immune checkpoint inhibitor therapy of non-small-cell lung cancer.

Annals of oncology : official journal of the European Society for Medical Oncology Apr 1, 2019
Male Middle Aged Lung Humans Lung Neoplasms B7-H1 Antigen Machine Learning Programmed Cell Death 1 Receptor Aged Models, Genetic Drug Resistance, Neoplasm Aged, 80 and over Carcinoma, Non-Small-Cell Lung Adult Predictive Value of Tests Biomarkers, Tumor Mutation Biopsy
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GOF/LOF knowledge inference with tensor decomposition in support of high order link discovery for gene, mutation and disease.

Mathematical biosciences and engineering : MBE Feb 20, 2019
For discovery of new usage of drugs, the function type of their target genes plays an important role, and the hypothesis of "Antagonist-GOF" and "Agonist-LOF" has laid a solid foundation for supporting drug repurposing. In this research, an active ge...
Mutation Molecular Sequence Annotation Humans Recombinant Proteins Genetic Variation Genetic Diseases, Inborn Machine Learning Cost-Benefit Analysis Models, Genetic Interleukin-2 Receptor alpha Subunit Myelodysplastic Syndromes Software Interleukin-2 Algorithms Lymphoma Drug Repositioning
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