single nucleotide polymorphism variant

Aliases

SNP, SNPs, single nucleotide polymorphism (SNP)

External links

ClinVar

No related entities found.

Mentioned in (47)

Papers in which this entity is mentioned.

• ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. (2024)
• An overview of DNA methylation-derived trait score methods and applications. (2023)
• Biobank-scale methods and projections for sparse polygenic prediction from machine learning. (2023)
• Research Review: A guide to computing and implementing polygenic scores in developmental research. (2022)
• A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data. (2021)
• Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. (2020)
• DNA methylation and brain structure and function across the life course: A systematic review. (2020)
• Gestational diabetes induces behavioral and brain gene transcription dysregulation in adult offspring. (2020)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue. (2019)
• Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
• Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution. (2017)
• Benchmark Dose Modeling Estimates of the Concentrations of Inorganic Arsenic That Induce Changes to the Neonatal Transcriptome, Proteome, and Epigenome in a Pregnancy Cohort. (2017)
• BECon: a tool for interpreting DNA methylation findings from blood in the context of brain. (2017)
• Ancient DNA and the rewriting of human history: be sparing with Occam's razor. (2016)
• The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository. (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. (2014)
• Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
• Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. (2013)
• Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
• QualComp: a new lossy compressor for quality scores based on rate distortion theory. (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
• A cross-sample statistical model for SNP detection in short-read sequencing data. (2012)
• CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
• The genetics of the opioid system and specific drug addictions. (2012)
• A comparison of approaches to account for uncertainty in analysis of imputed genotypes. (2011)
• Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. (2011)
• Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. (2011)
• Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes. (2010)
• Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction. (2010)
• TumorBoost: normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays. (2010)
• The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (2010)
• Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. (2009)
• Finding the missing heritability of complex diseases. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. (2009)
• Genome-wide association studies in ADHD. (2009)
• From mouse to man: the 5-HT3 receptor modulates physical dependence on opioid narcotics. (2009)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
• SNPs3D: candidate gene and SNP selection for association studies. (2006)

Merged raw entities (2)

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