AIMC Topic: Polymorphism, Single Nucleotide

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High-throughput multimodal automated phenotyping (MAP) with application to PheWAS.

Journal of the American Medical Informatics Association : JAMIA Nov 1, 2019
OBJECTIVE: Electronic health records linked with biorepositories are a powerful platform for translational studies. A major bottleneck exists in the ability to phenotype patients accurately and efficiently. The objective of this study was to develop ...
Humans Natural Language Processing Area Under Curve International Classification of Diseases Unified Medical Language System Algorithms Phenotype Electronic Health Records Polymorphism, Single Nucleotide
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Integration of machine learning and pharmacogenomic biomarkers for predicting response to antidepressant treatment: can computational intelligence be used to augment clinical assessments?

Pharmacogenomics Sep 1, 2019
Polymorphism, Single Nucleotide Antidepressive Agents Depressive Disorder Algorithms Biomarkers Pharmacogenetics Humans Artificial Intelligence Machine Learning
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TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes.

Nucleic acids research Aug 22, 2019
Genome-wide association studies (GWAS) associate single nucleotide polymorphisms (SNPs) to complex phenotypes. Most human SNPs fall in non-coding regions and are likely regulatory SNPs, but linkage disequilibrium (LD) blocks make it difficult to dist...
Supervised Machine Learning Gene Expression Regulation Quantitative Trait Loci Genetic Predisposition to Disease Linkage Disequilibrium Polymorphism, Single Nucleotide Regulatory Sequences, Nucleic Acid Humans Computational Biology Internet Phenotype Genome-Wide Association Study
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EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.

Nucleic acids research Apr 23, 2019
The associations between diseases/traits and copy number variants (CNVs) have not been systematically investigated in genome-wide association studies (GWASs), primarily due to a lack of robust and accurate tools for CNV genotyping. Herein, we propose...
Quality Control Datasets as Topic Genome, Human Genotyping Techniques Humans Machine Learning Polymorphism, Single Nucleotide DNA Copy Number Variations
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Machine Learning as an Effective Method for Identifying True Single Nucleotide Polymorphisms in Polyploid Plants.

The plant genome Mar 1, 2019
Single nucleotide polymorphisms (SNPs) have many advantages as molecular markers since they are ubiquitous and codominant. However, the discovery of true SNPs in polyploid species is difficult. Peanut ( L.) is an allopolyploid, which has a very low r...
Models, Genetic Datasets as Topic Arachis Polyploidy Machine Learning Polymorphism, Single Nucleotide
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Outgroup Machine Learning Approach Identifies Single Nucleotide Variants in Noncoding DNA Associated with Autism Spectrum Disorder.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing Jan 1, 2019
Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder affecting 1 in 59 children. While noncoding genetic variation has been shown to play a major role in many complex disorders, the contribution of these regions to ASD susceptibi...
Supranuclear Palsy, Progressive CpG Islands RNA, Untranslated Microsatellite Repeats Polymorphism, Single Nucleotide Genetic Association Studies Humans Computational Biology Machine Learning Logistic Models Female MicroRNAs Cohort Studies Phenotype DNA Autism Spectrum Disorder Child Male Whole Genome Sequencing Gene Regulatory Networks Case-Control Studies Genetic Variation Genetic Predisposition to Disease
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Res2s2aM: Deep residual network-based model for identifying functional noncoding SNPs in trait-associated regions.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing Jan 1, 2019
Noncoding single nucleotide polymorphisms (SNPs) and their target genes are important components of the heritability of diseases and other polygenic traits. Identifying these SNPs and target genes could potentially reveal new molecular mechanisms and...
Databases, Nucleic Acid Deep Learning Genome-Wide Association Study Polymorphism, Single Nucleotide Computational Biology Models, Genetic Sequence Analysis, DNA Molecular Sequence Annotation Humans Neural Networks, Computer Algorithms
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Modulation of aldosterone levels by aldosterone synthase promoter polymorphism and association with eGFR decline in patients with chronic kidney disease.

Discovery medicine Dec 1, 2018
To determine whether -344T/C CYP11B2 promoter polymorphism affects serum aldosterone levels and whether this polymorphism is an indicator of eGFR decline in patients with chronic kidney disease. -344 C/T CYP11B2 gene polymorphism analysis was perform...
Down-Regulation Cytochrome P-450 CYP11B2 Promoter Regions, Genetic Disease Progression Adult Polymorphism, Single Nucleotide Humans Glomerular Filtration Rate Male Renal Insufficiency, Chronic Follow-Up Studies Female Cardiovascular Diseases Aldosterone Aged Middle Aged Cerebrovascular Disorders
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GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Bioinformatics (Oxford, England) Sep 1, 2018
SUMMARY: Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. However, a significant proportion of identified genetic variants are ac...
Polymorphism, Single Nucleotide Sequence Analysis, DNA High-Throughput Nucleotide Sequencing INDEL Mutation Deep Learning Genomics
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Multivariate Pattern Analysis of Genotype-Phenotype Relationships in Schizophrenia.

Schizophrenia bulletin Aug 20, 2018
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity wi...
Humans Machine Learning Phenotype Endophenotypes Middle Aged Female United States Sweden Multifactorial Inheritance Cognitive Dysfunction Registries Young Adult Polymorphism, Single Nucleotide Schizophrenia Adult Genotype Male
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