single nucleotide polymorphism variant

Aliases

SNP, SNPs, single nucleotide polymorphism (SNP)

External links

ClinVar

No related entities found.

Mentioned in (21)

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)
• 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)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution. (2017)
• 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)
• Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
• QualComp: a new lossy compressor for quality scores based on rate distortion theory. (2013)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• A cross-sample statistical model for SNP detection in short-read sequencing data. (2012)
• 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)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. (2009)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)

Merged raw entities (2)

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