AIMC Topic: Genome, Human

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iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes.

BMC bioinformatics Dec 28, 2018
BACKGROUND: A range of rare and common genetic variants have been discovered to be potentially associated with mental diseases, but many more have not been uncovered. Powerful integrative methods are needed to systematically prioritize both variants ...
Humans Neural Networks, Computer Polymorphism, Single Nucleotide Databases, Genetic Area Under Curve Genome, Human Software Mental Disorders Deep Learning Genetic Predisposition to Disease
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Discerning novel splice junctions derived from RNA-seq alignment: a deep learning approach.

BMC genomics Dec 27, 2018
BACKGROUND: Exon splicing is a regulated cellular process in the transcription of protein-coding genes. Technological advancements and cost reductions in RNA sequencing have made quantitative and qualitative assessments of the transcriptome both poss...
RNA Splicing Exons Sequence Analysis, RNA Genome, Human Sequence Alignment Humans Software Gene Expression Profiling Deep Learning
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A primer on deep learning in genomics.

Nature genetics Nov 26, 2018
Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful appl...
Deep Learning Genomics Genome, Human Humans Machine Learning
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Machine learning predicts individual cancer patient responses to therapeutic drugs with high accuracy.

Scientific reports Nov 6, 2018
Precision or personalized cancer medicine is a clinical approach that strives to customize therapies based upon the genomic profiles of individual patient tumors. Machine learning (ML) is a computational method particularly suited to the establishmen...
Humans Precision Medicine Female Biomarkers, Tumor Neoplasms Machine Learning Algorithms Databases, Factual Antimetabolites, Antineoplastic Deoxycytidine Gemcitabine Ovarian Neoplasms Transcriptome Predictive Value of Tests Computational Biology Fluorouracil Support Vector Machine Genome, Human
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CamurWeb: a classification software and a large knowledge base for gene expression data of cancer.

BMC bioinformatics Oct 15, 2018
BACKGROUND: The high growth of Next Generation Sequencing data currently demands new knowledge extraction methods. In particular, the RNA sequencing gene expression experimental technique stands out for case-control studies on cancer, which can be ad...
Genes, Neoplasm Software Neoplasms Sequence Analysis, RNA Gene Expression Regulation, Neoplastic Knowledge Bases Base Sequence Genome, Human Humans
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A universal SNP and small-indel variant caller using deep neural networks.

Nature biotechnology Sep 24, 2018
Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains challenging. Here we show that a deep convolutional neural network can call...
Animals Genomics Polymorphism, Single Nucleotide Genotype Sequence Analysis, DNA Mammals High-Throughput Nucleotide Sequencing Humans Neural Networks, Computer Software DNA Mutational Analysis Genome, Human INDEL Mutation
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Machine learning identifies interacting genetic variants contributing to breast cancer risk: A case study in Finnish cases and controls.

Scientific reports Sep 3, 2018
We propose an effective machine learning approach to identify group of interacting single nucleotide polymorphisms (SNPs), which contribute most to the breast cancer (BC) risk by assuming dependencies among BCAC iCOGS SNPs. We adopt a gradient tree b...
Finland Case-Control Studies Protein Interaction Mapping Genome, Human Estrogen Receptor alpha Genome-Wide Association Study Humans Risk Gene Regulatory Networks Prognosis Ubiquitin-Protein Ligases Genetic Predisposition to Disease Female Breast Neoplasms Polymorphism, Single Nucleotide Gene Expression Regulation, Neoplastic Support Vector Machine Base Sequence
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iRNA-2OM: A Sequence-Based Predictor for Identifying 2'-O-Methylation Sites in Homo sapiens.

Journal of computational biology : a journal of computational molecular cell biology Aug 16, 2018
2'-O-methylation plays an important biological role in gene expression. Owing to the explosive increase in genomic sequencing data, it is necessary to develop a method for quickly and efficiently identifying whether a sequence contains the 2'-O-methy...
Software RNA Interference Algorithms Computational Biology RNA Support Vector Machine Methylation Genome, Human Humans
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Epigenetic machine learning: utilizing DNA methylation patterns to predict spastic cerebral palsy.

BMC bioinformatics Jun 21, 2018
BACKGROUND: Spastic cerebral palsy (CP) is a leading cause of physical disability. Most people with spastic CP are born with it, but early diagnosis is challenging, and no current biomarker platform readily identifies affected individuals. The aim of...
Epigenomics Sequence Analysis, DNA DNA Methylation Humans Case-Control Studies Adolescent Genetic Predisposition to Disease Machine Learning Biomarkers Female Male Genome, Human Cerebral Palsy Pattern Recognition, Automated
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Role of artificial intelligence in the care of patients with nonsmall cell lung cancer.

European journal of clinical investigation Feb 19, 2018
BACKGROUND: Lung cancer is the leading cause of cancer death worldwide. In up to 57% of patients, it is diagnosed at an advanced stage and the 5-year survival rate ranges between 10%-16%. There has been a significant amount of research using machine ...
Carcinoma, Non-Small-Cell Lung Forecasting Genome, Human Humans Precision Medicine Artificial Intelligence Lung Neoplasms Machine Learning Immunotherapy
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