AIMC Topic: Genome, Human

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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 Genome, Human Data Mining Selection, Genetic Biological Evolution Datasets as Topic Genetics, Population
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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...
Genome, Human Transcription, Genetic Lung Neoplasms Adenocarcinoma Mutation Humans Machine Learning Neoplasms
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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...
Machine Learning Computational Biology Base Sequence Humans RNA Splicing Exons Position-Specific Scoring Matrices Genome, Human Introns Nucleotide Motifs
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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...
Genome, Human Enhancer Elements, Genetic Computational Biology Models, Genetic DNA Humans Neural Networks, Computer Machine Learning Algorithms Databases, Factual Genomics
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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...
Diagnosis Gender Identity Humans Neural Networks, Computer Precision Medicine Risk Factors Age Factors Genome, Human
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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...
Machine Learning Computer Simulation Base Sequence Humans Genome, Human G-Quadruplexes
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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 ...
Phase Transition Chromatin Chromosomes, Human Genome, Human Molecular Conformation Thermodynamics Humans Neural Networks, Computer Animals Epigenesis, Genetic In Situ Hybridization, Fluorescence Cell Nucleus
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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.
Humans Machine Learning Models, Genetic Sequence Analysis, DNA Genetic Variation Biological Evolution Adaptation, Biological Genetics, Population Genome, Human Selection, Genetic Linkage Disequilibrium
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Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.

American journal of human genetics Feb 9, 2017
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from a cohort are mislabeled, swapped, or contaminated or if they include unintended individuals. Unfortunately, the potential for such errors is...
Chromosomes, Human, X Genome, Human Pedigree Exome Genetic Association Studies Sequence Analysis, DNA Genetic Loci Humans Male Polymorphism, Single Nucleotide Genotype Machine Learning Software Female
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A Machine Learning Approach for MicroRNA Precursor Prediction in Retro-transcribing Virus Genomes.

Journal of integrative bioinformatics Dec 22, 2016
Identification of microRNA (miRNA) precursors has seen increased efforts in recent years. The difficulty in experimental detection of pre-miRNAs increased the usage of computational approaches. Most of these approaches rely on machine learning especi...
Nucleic Acid Conformation RNA Precursors Reverse Transcription Genome, Human Genome, Viral Humans Artificial Intelligence ROC Curve MicroRNAs
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