single nucleotide variant variant
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Mentioned in (31)
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)
- 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)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
Merged raw entities (2)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| single nucleotide variant | variant | 34 | 45 |
| low-frequency single nucleotide variant | variant | — | — |