AIMC Topic: Genome, Human

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LncLocation: Efficient Subcellular Location Prediction of Long Non-Coding RNA-Based Multi-Source Heterogeneous Feature Fusion.

International journal of molecular sciences Oct 1, 2020
Recent studies uncover that subcellular location of long non-coding RNAs (lncRNAs) can provide significant information on its function. Due to the lack of experimental data, the number of lncRNAs is very limited, experimentally verified subcellular l...
RNA, Long Noncoding Benchmarking Exosomes Datasets as Topic Animals Computational Biology Support Vector Machine Databases, Genetic Terminology as Topic Cytoplasm Ribosomes Eukaryotic Cells Cell Nucleus Gene Expression Regulation Base Sequence Humans Genome, Human Software
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Evaluating the informativeness of deep learning annotations for human complex diseases.

Nature communications Sep 17, 2020
Deep learning models have shown great promise in predicting regulatory effects from DNA sequence, but their informativeness for human complex diseases is not fully understood. Here, we evaluate genome-wide SNP annotations from two previous deep learn...
Alleles Genome-Wide Association Study Genome, Human Genetic Predisposition to Disease Histones Polymorphism, Single Nucleotide Disease Humans Molecular Sequence Annotation Models, Genetic Linkage Disequilibrium Phenotype Deep Learning
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MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.

Genomics, proteomics & bioinformatics Sep 8, 2020
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease...
Zygote Disease Health Humans Databases, Genetic Mosaicism Software Mutation Phenotype Knowledge Bases User-Computer Interface Genome, Human
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DeepVariant-on-Spark: Small-Scale Genome Analysis Using a Cloud-Based Computing Framework.

Computational and mathematical methods in medicine Sep 1, 2020
Although sequencing a human genome has become affordable, identifying genetic variants from whole-genome sequence data is still a hurdle for researchers without adequate computing equipment or bioinformatics support. GATK is a gold standard method fo...
High-Throughput Nucleotide Sequencing Deep Learning Humans Cost-Benefit Analysis Computational Biology Neural Networks, Computer Genome, Human Whole Genome Sequencing Software Cloud Computing Genetic Variation
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Frequency spectra characterization of noncoding human genomic sequences.

Genes & genomics Aug 31, 2020
BACKGROUND: Noncoding sequences have been demonstrated to possess regulatory functions. Its classification is challenging because they do not show well-defined nucleotide patterns that can correlate with their biological functions. Genomic signal pro...
Genomics Nucleotides Genome, Human Regulatory Sequences, Nucleic Acid Humans Machine Learning Algorithms
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A machine learning approach to optimizing cell-free DNA sequencing panels: with an application to prostate cancer.

BMC cancer Aug 28, 2020
BACKGROUND: Cell-free DNA's (cfDNA) use as a biomarker in cancer is challenging due to genetic heterogeneity of malignancies and rarity of tumor-derived molecules. Here we describe and demonstrate a novel machine-learning guided panel design strategy...
Mutation Whole Genome Sequencing Base Sequence Genome, Human Circulating Tumor DNA Middle Aged Humans Cohort Studies Machine Learning Sequence Analysis, DNA Aged Prostatic Neoplasms Adult Aged, 80 and over Biomarkers, Tumor Male
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A Comparative Study of Supervised Machine Learning Algorithms for the Prediction of Long-Range Chromatin Interactions.

Genes Aug 24, 2020
The role of three-dimensional genome organization as a critical regulator of gene expression has become increasingly clear over the last decade. Most of our understanding of this association comes from the study of long range chromatin interaction ma...
Gene Expression Regulation, Leukemic Chromatin Support Vector Machine Supervised Machine Learning Genome, Human K562 Cells Humans Algorithms Computer Simulation
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Artificial intelligence powered statistical genetics in biobanks.

Journal of human genetics Aug 11, 2020
Large-scale, sometimes nationwide, prospective genomic cohorts biobanking rich biological specimens such as blood, urine and tissues, have been established and released their vast amount of data in several countries. These genetic and epidemiological...
Humans Artificial Intelligence Genetic Association Studies Computational Biology Biological Specimen Banks Genome, Human Reproducibility of Results Genome-Wide Association Study Genomics Polymorphism, Single Nucleotide
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Cross-species regulatory sequence activity prediction.

PLoS computational biology Jul 20, 2020
Machine learning algorithms trained to predict the regulatory activity of nucleic acid sequences have revealed principles of gene regulation and guided genetic variation analysis. While the human genome has been extensively annotated and studied, mod...
Computational Biology Epigenomics Models, Genetic Databases, Genetic Sequence Analysis, DNA Algorithms Models, Statistical Animals Mutation Quantitative Trait Loci Humans Mice Neural Networks, Computer Hepatocytes Genetic Variation Genomics Machine Learning Gene Expression Regulation Software Genome, Human Species Specificity
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Decoding whole-genome mutational signatures in 37 human pan-cancers by denoising sparse autoencoder neural network.

Oncogene Jun 11, 2020
Millions of somatic mutations have recently been discovered in cancer genomes. These mutations in cancer genomes occur due to internal and external mutagenesis forces. Decoding the mutational processes by examining their unique patterns has successfu...
Genome, Human INDEL Mutation Point Mutation Humans Neoplasms Deep Learning DNA
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