AIMC Topic: Genetic Variation

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Sequence-based prediction of variants' effects.

Nature methods Aug 1, 2018
Deep Learning Genetic Variation
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Machine learning annotation of human branchpoints.

Bioinformatics (Oxford, England) Mar 15, 2018
MOTIVATION: The branchpoint element is required for the first lariat-forming reaction in splicing. However current catalogues of human branchpoints remain incomplete due to the difficulty in experimentally identifying these splicing elements. To addr...
Sensitivity and Specificity Sequence Analysis, DNA Genetic Variation Humans Machine Learning Software RNA Splicing Genome, Human Molecular Sequence Annotation Introns
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Gramene 2018: unifying comparative genomics and pathway resources for plant research.

Nucleic acids research Jan 4, 2018
Gramene (http://www.gramene.org) is a knowledgebase for comparative functional analysis in major crops and model plant species. The current release, #54, includes over 1.7 million genes from 44 reference genomes, most of which were organized into 62,...
Software User-Computer Interface Genomics Knowledge Bases Genetic Variation Molecular Sequence Annotation Gene Ontology Genome, Plant Gene Expression Regulation, Plant Metabolic Networks and Pathways Plants Genetic Research Epigenesis, Genetic Databases, Genetic
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Unhidden Figures.

Cell systems Dec 27, 2017
Genome Cost-Benefit Analysis Information Dissemination Cloud Computing Genetic Variation Humans High-Throughput Nucleotide Sequencing Neural Networks, Computer Software Animals Internet
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Computer-Aided Diagnosis of Lung Nodules in Computed Tomography by Using Phylogenetic Diversity, Genetic Algorithm, and SVM.

Journal of digital imaging Dec 1, 2017
Lung cancer is pointed as the major cause of death among patients with cancer throughout the world. This work is intended to develop a methodology for diagnosis of lung nodules using images from the Image Database Consortium and Image Database Resour...
Image Processing, Computer-Assisted Lung Neoplasms Support Vector Machine Phylogeny Diagnosis, Computer-Assisted Solitary Pulmonary Nodule Genetic Variation Pattern Recognition, Automated Humans Tomography, X-Ray Computed Reproducibility of Results Sensitivity and Specificity Lung
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Impact of Clinical Parameters in the Intrahost Evolution of HIV-1 Subtype B in Pediatric Patients: A Machine Learning Approach.

Genome biology and evolution Oct 1, 2017
Determining the factors modulating the genetic diversity of HIV-1 populations is essential to understand viral evolution. This study analyzes the relative importance of clinical factors in the intrahost HIV-1 subtype B (HIV-1B) evolution and in the f...
Humans Biological Evolution Genetic Variation HIV-1 Machine Learning Spain HIV Infections Cohort Studies
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CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.

Nature genetics Jan 31, 2017
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of inherited and somatic variants of all types. CIViC is committed to open-s...
Genetic Variation Crowdsourcing Humans Neoplasms Mutation Knowledge Bases
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A Sparse Learning Framework for Joint Effect Analysis of Copy Number Variants.

IEEE/ACM transactions on computational biology and bioinformatics Jan 1, 2017
Copy number variants (CNVs), including large deletions and duplications, represent an unbalanced change of DNA segments. Abundant in human genomes, CNVs contribute to a large proportion of human genetic diversity, with impact on many human phenotypes...
Genomics Databases, Genetic DNA Copy Number Variations Genetic Variation Genome, Human Humans Machine Learning Protein Interaction Maps
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Genetics. Predicting the impact of genomic variation.

Nature methods Mar 1, 2016
Genetic Variation Base Sequence Genome, Human Models, Statistical Humans Molecular Sequence Data Unsupervised Machine Learning Computer Simulation Chromosome Mapping Models, Genetic Sequence Analysis, DNA
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[Variability of Cytochrome b Gene and Adjacent Section of Gene tRNA-Thr of Mitochondrial DNA in the Northern Mole Vole Ellobius talpinus (Mammalia, Rodentia)].

Genetika Dec 1, 2015
The Northern mole vole E. talpinus, despite its wide distribution, is characterized by a stable karyotype (2n = NF = 54) and slight morphological polymorphism. We made a preliminary analysis of a mitochondrial DNA fragment to clarify the level of gen...
DNA, Mitochondrial Cytochromes b Animals Genetic Variation RNA, Transfer, Thr Male Arvicolinae
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