SNV variant

Aliases

SNP, SNVs, low frequency SNV, low-frequency SNV, single nucleotide polymorphism, single nucleotide variant

External links

ClinVar

Related entities (1)

Mentioned in (99)

Papers in which this entity is mentioned.

• Genome modelling and design across all domains of life with Evo 2. (2026)
• Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. (2026)
• Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States. (2025)
• MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
• Functional analysis of cancer-associated germline risk variants. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Tumor-informed deep sequencing of ctDNA detects minimal residual disease and predicts relapse in osteosarcoma. (2024)
• Alcohol Use Disorder Polygenic Score Compared With Family History and ADH1B. (2024)
• Molecular profiling of 888 pediatric tumors informs future precision trials and data-sharing initiatives in pediatric cancer. (2024)
• Transient loss of Polycomb components induces an epigenetic cancer fate. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
• The Application of Long-Read Sequencing to Cancer. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• A Novel Tissue-Free Method to Estimate Tumor-Derived Cell-Free DNA Quantity Using Tumor Methylation Patterns. (2023)
• Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• Cell-free DNA technologies for the analysis of brain cancer. (2022)
• Single-cell genomic variation induced by mutational processes in cancer. (2022)
• Inferring gene expression from cell-free DNA fragmentation profiles. (2022)
• Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
• Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. (2021)
• Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. (2021)
• Nanopore sequencing technology, bioinformatics and applications. (2021)
• Accucopy: accurate and fast inference of allele-specific copy number alterations from low-coverage low-purity tumor sequencing data. (2021)
• A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X. (2020)
• Best practices for variant calling in clinical sequencing. (2020)
• Structural variation in the sequencing era. (2020)
• Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
• Pan-cancer analysis of whole genomes. (2020)
• Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (2020)
• dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• Pan-cancer landscape of homologous recombination deficiency. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA. (2020)
• Ploidy- and Purity-Adjusted Allele-Specific DNA Analysis Using CLONETv2. (2019)
• The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Assessment of tumor mutation burden calculation from gene panel sequencing data. (2019)
• Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project. (2019)
• Best practices for bioinformatic characterization of neoantigens for clinical utility. (2019)
• Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
• CALDER: Inferring Phylogenetic Trees from Longitudinal Tumor Samples. (2019)
• Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
• Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. (2018)
• Quantification of subclonal selection in cancer from bulk sequencing data. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• The Immune Landscape of Cancer. (2018)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes (2018)
• Sensitivity to sequencing depth in single-cell cancer genomics. (2018)
• Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
• Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations. (2018)
• Copy number signatures and mutational processes in ovarian carcinoma. (2018)
• SVclone: inferring structural variant cancer cell fraction (2017)
• The evolution of tumour phylogenetics: principles and practice. (2017)
• Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. (2017)
• A pooled mutational analysis identifies ionizing radiation-associated mutational signatures conserved between mouse and human malignancies. (2017)
• Patient-derived xenografts undergo mouse-specific tumor evolution. (2017)
• Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
• CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. (2017)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• ReMixT: clone-specific genomic structure estimation in cancer. (2017)
• Tumor phylogeny inference using tree-constrained importance sampling. (2017)
• The impact of structural variation on human gene expression. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• Statistical modeling for sensitive detection of low-frequency single nucleotide variants. (2016)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Integrated digital error suppression for improved detection of circulating tumor DNA. (2016)
• GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
• Somatic cancer variant curation and harmonization through consensus minimum variant level data. (2016)
• Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress. (2016)
• Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
• GenVisR: Genomic Visualizations in R. (2016)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. (2015)
• The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. (2014)
• Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
• An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. (2014)
• Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data. (2013)
• A simple consensus approach improves somatic mutation prediction accuracy. (2013)
• A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
• Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. (2013)
• Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
• High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. (2012)
• AID/APOBEC cytosine deaminase induces genome-wide kataegis. (2012)
• Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. (2012)
• VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
• Recurring mutations found by sequencing an acute myeloid leukemia genome. (2009)
• Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

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