SNVs variant
Evidence from:
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Related entities (12)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| African American | associated_with | SNVs | — | 1 |
| candidate genes | regulates | SNVs | 1e-15 | 1 |
| common variants | associated_with | SNVs | — | 1 |
| European ancestry | associated_with | SNVs | — | 1 |
| missense variants | associated_with | SNVs | — | 1 |
| rare variant | associated_with | SNVs | — | 1 |
| SNVs | associated_with | African American | 1e-15 | 1 |
| SNVs | associated_with | candidate genes | — | 1 |
| SNVs | associated_with | European ancestry | 1e-15 | 1 |
| SNVs | associated_with | GWAS | — | 1 |
| splice site variants | associated_with | SNVs | — | 1 |
| synonymous variant | associated_with | SNVs | — | 1 |
Mentioned in (66)
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)
- A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. (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)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- 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)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (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)
- Annotation of functional variation in personal genomes using RegulomeDB. (2012)
- Novel mutations target distinct subgroups of medulloblastoma. (2012)
- Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (2012)
- Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN
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 |
|---|---|---|---|
| snvs | variant | 55 | 102 |
| single nucleotide variants | variant | 15 | 16 |