single nucleotide variant variant

Aliases

SNV, low-frequency single nucleotide variant, single nucleotide variants

External links

ClinVar

No related entities found.

Mentioned in (34)

Papers in which this entity is mentioned.

• Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. (2026)
• Investigation of a global mouse methylome atlas reveals subtype-specific copy number alterations in pediatric cancer models. (2026)
• Flexynesis: A deep learning toolkit for bulk multi-omics data integration for precision oncology and beyond. (2025)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
• The landscape of drug sensitivity and resistance in sarcoma. (2024)
• The Application of Long-Read Sequencing to Cancer. (2024)
• Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. (2021)
• A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• Structural variation in the sequencing era. (2020)
• Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions. (2019)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Structural variant calling: the long and the short of it. (2019)
• RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Identifying simultaneous rearrangements in cancer genomes. (2018)
• Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
• Enhanced detection of circulating tumor DNA by fragment size analysis. (2018)
• Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes (2018)
• Predicting T cell recognition of MHC class I restricted neoepitopes. (2018)
• CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. (2017)
• PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
• The impact of structural variation on human gene expression. (2017)
• Statistical modeling for sensitive detection of low-frequency single nucleotide variants. (2016)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. (2014)
• THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data. (2013)
• Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data. (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. (2013)
• VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)

Merged raw entities (2)

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