SNVs variant

Aliases

SNVs, single nucleotide variants

External links

ClinVar

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Mentioned in (61)

Papers in which this entity is mentioned.

• Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. (2026)
• Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. (2026)
• Whole-genome landscapes of 1,364 breast cancers. (2026)
• Functional analysis of cancer-associated germline risk variants. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Alcohol Use Disorder Polygenic Score Compared With Family History and ADH1B. (2024)
• Transient loss of Polycomb components induces an epigenetic cancer fate. (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)
• Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors. (2023)
• mutations, genetic mosaicism and human disease. (2022)
• 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)
• Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
• Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. (2021)
• Application of third-generation sequencing in cancer research. (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)
• DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers. (2020)
• Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• Pan-cancer landscape of homologous recombination deficiency. (2020)
• Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (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 mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions. (2019)
• The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
• Accurity: accurate tumor purity and ploidy inference from tumor-normal WGS data by jointly modelling somatic copy number alterations and heterozygous germline single-nucleotide-variants. (2018)
• Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
• Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (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)
• 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)
• SVclone: inferring structural variant cancer cell fraction (2017)
• Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
• CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. (2017)
• ReMixT: clone-specific genomic structure estimation in cancer. (2017)
• The impact of structural variation on human gene expression. (2017)
• Statistical modeling for sensitive detection of low-frequency single nucleotide variants. (2016)
• Integrated digital error suppression for improved detection of circulating tumor DNA. (2016)
• Recurrent somatic mutations in regulatory regions of human cancer genomes. (2015)
• Clinical exome performance for reporting secondary genetic findings. (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)
• PyClone: statistical inference of clonal population structure in cancer. (2014)
• A simple consensus approach improves somatic mutation prediction accuracy. (2013)
• DGIdb: mining the druggable genome. (2013)
• Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. (2013)
• Computational approaches to identify functional genetic variants in cancer genomes. (2013)
• Novel mutations target distinct subgroups of medulloblastoma. (2012)
• Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

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