SNV variant
Evidence from:
primary |
all sources
Related entities (13)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| African American | associated_with | SNV | 1e-16 | 1 |
| DS | targets | SNV | — | 1 |
| European ancestry | associated_with | SNV | 1e-16 | 1 |
| indel | associated_with | SNV | — | 1 |
| singletons | associated_with | SNV | — | 1 |
| SNV | associated_with | coding variant | — | 1 |
| SNV | associated_with | disease | — | 1 |
| SNV | associated_with | functional SNP | — | 1 |
| SNV | associated_with | gene | — | 1 |
| SNV | associated_with | Gm12878 | — | 1 |
| SNV | associated_with | noncoding variant | — | 1 |
| SNV | associated_with | RegulomeDB | — | 1 |
| synonymous variant | associated_with | SNV | — | 1 |
Mentioned in (103)
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)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- 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)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (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)
- Annotation of functional variation in personal genomes using RegulomeDB. (2012)
- AID/APOBEC cytosine deaminase induces genome-wide kataegis. (2012)
- Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (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
Merged raw entities (3)
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 |
|---|---|---|---|
| snv | variant | 103 | 421 |
| low-frequency snv | variant | 1 | 1 |
| low frequency snv | variant | — | — |