AIMC Topic: Genome, Human

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Functional Categorization of Disease Genes Based on Spectral Graph Theory and Integrated Biological Knowledge.

Interdisciplinary sciences, computational life sciences Jan 30, 2018
Interaction of multiple genetic variants is a major challenge in the development of effective treatment strategies for complex disorders. Identifying the most promising genes enhances the understanding of the underlying mechanisms of the disease, whi...
Phenotype Autism Spectrum Disorder Gene Expression Profiling Humans Oligonucleotide Array Sequence Analysis Algorithms Computer Graphics Knowledge Bases Probability Genome, Human Genomics Computational Biology Cluster Analysis
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Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method.

Proceedings of the National Academy of Sciences of the United States of America Jan 22, 2018
Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to ca...
Life Style Polymorphism, Single Nucleotide Probability Genome, Human Humans Machine Learning Neoplasms Genetic Predisposition to Disease
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Supervised Machine Learning for Population Genetics: A New Paradigm.

Trends in genetics : TIG Jan 10, 2018
As population genomic datasets grow in size, researchers are faced with the daunting task of making sense of a flood of information. To keep pace with this explosion of data, computational methodologies for population genetic inference are rapidly be...
Humans Supervised Machine Learning Selection, Genetic Biological Evolution Genetics, Population Data Mining Datasets as Topic Genome, Human
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Classifying cancer genome aberrations by their mutually exclusive effects on transcription.

BMC medical genomics Dec 21, 2017
BACKGROUND: Malignant tumors are typically caused by a conglomeration of genomic aberrations-including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug trea...
Mutation Neoplasms Humans Lung Neoplasms Genome, Human Machine Learning Adenocarcinoma Transcription, Genetic
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Predicting human splicing branchpoints by combining sequence-derived features and multi-label learning methods.

BMC bioinformatics Dec 1, 2017
BACKGROUND: Alternative splicing is the critical process in a single gene coding, which removes introns and joins exons, and splicing branchpoints are indicators for the alternative splicing. Wet experiments have identified a great number of human sp...
Exons Position-Specific Scoring Matrices Introns Nucleotide Motifs RNA Splicing Computational Biology Base Sequence Genome, Human Humans Machine Learning
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Predicting enhancers with deep convolutional neural networks.

BMC bioinformatics Dec 1, 2017
BACKGROUND: With the rapid development of deep sequencing techniques in the recent years, enhancers have been systematically identified in such projects as FANTOM and ENCODE, forming genome-wide landscapes in a series of human cell lines. Nevertheles...
Models, Genetic DNA Genome, Human Databases, Factual Genomics Computational Biology Enhancer Elements, Genetic Humans Neural Networks, Computer Machine Learning Algorithms
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Network-based analysis of diagnosis progression patterns using claims data.

Scientific reports Nov 14, 2017
In recent years, several network models have been introduced to elucidate the relationships between diseases. However, important risk factors that contribute to many human diseases, such as age, gender and prior diagnoses, have not been considered in...
Humans Neural Networks, Computer Precision Medicine Risk Factors Gender Identity Age Factors Genome, Human Diagnosis
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Machine learning model for sequence-driven DNA G-quadruplex formation.

Scientific reports Nov 6, 2017
We describe a sequence-based computational model to predict DNA G-quadruplex (G4) formation. The model was developed using large-scale machine learning from an extensive experimental G4-formation dataset, recently obtained for the human genome via G4...
Computer Simulation Base Sequence Genome, Human G-Quadruplexes Humans Machine Learning
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De novo prediction of human chromosome structures: Epigenetic marking patterns encode genome architecture.

Proceedings of the National Academy of Sciences of the United States of America Oct 31, 2017
Inside the cell nucleus, genomes fold into organized structures that are characteristic of cell type. Here, we show that this chromatin architecture can be predicted de novo using epigenetic data derived from chromatin immunoprecipitation-sequencing ...
Chromatin Chromosomes, Human Neural Networks, Computer Animals Molecular Conformation Epigenesis, Genetic Thermodynamics Phase Transition Humans In Situ Hybridization, Fluorescence Cell Nucleus Genome, Human
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Selection plays the hand it was dealt: evidence that human adaptation commonly targets standing genetic variation.

Genome biology Aug 1, 2017
Using a powerful machine learning approach, a recent study of human genomes has revealed widespread footprints of recent positive selection on standing genetic variation.
Selection, Genetic Linkage Disequilibrium Biological Evolution Sequence Analysis, DNA Genetic Variation Genome, Human Adaptation, Biological Genetics, Population Humans Machine Learning Models, Genetic
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