mutations variant
Evidence from:
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all sources
Related entities (7)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| mutations | associated_with | affected individuals | — | 1 |
| mutations | risk_factor_for | colorectal cancer | — | 1 |
| mutations | risk_factor_for | cystic fibrosis | — | 1 |
| mutations | associated_with | disease | — | 1 |
| mutations | risk_factor_for | schizophrenia | — | 1 |
| mutations | associated_with | tumor | — | 1 |
| mutations | associated_with | Twin cohort | — | 1 |
Mentioned in (131)
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)
- Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort. (2026)
- Three-dimensional genome landscape of primary human cancers. (2025)
- ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
- Transcription start sites experience a high influx of heritable variants fueled by early development. (2025)
- Synthetic augmentation of cancer cell line multi-omic datasets using unsupervised deep learning. (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)
- Combination of genomic instability score and TP53 status for prognosis prediction in lung adenocarcinoma. (2023)
- Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types from 10,983 cancer patients (2023)
- Predicting tumour content of liquid biopsies from cell-free DNA. (2023)
- 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)
- 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)
- Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors. (2021)
- Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. (2021)
- A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
- kataegis: an R package for identification and visualization of the genomic localized hypermutation regions using high-throughput sequencing. (2021)
- Biologically informed deep neural network for prostate cancer discovery. (2021)
- Accurate detection of circulating tumor DNA using nanopore consensus sequencing. (2021)
- Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
- Best practices for variant calling in clinical sequencing. (2020)
- UMI-linked consensus sequencing enables phylogenetic analysis of directed evolution. (2020)
- Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
- Pan-cancer analysis of whole genomes. (2020)
- Inferring structural variant cancer cell fraction. (2020)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers. (2019)
- The mutational footprints of cancer therapies. (2019)
- Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. (2019)
- Germline variants associated with leukocyte genes predict tumor recurrence in breast cancer patients. (2019)
- Genome-wide cell-free DNA fragmentation in patients with cancer. (2019)
- RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. (2019)
- Best practices for bioinformatic characterization of neoantigens for clinical utility. (2019)
- Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
- CALDER: Inferring Phylogenetic Trees from Longitudinal Tumor Samples. (2019)
- Identifying simultaneous rearrangements in cancer genomes. (2018)
- Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. (2018)
- Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. (2018)
- Detection of Somatic Structural Variants Enables Quantification and Characterization of Circulating Tumor DNA in Children With Solid Tumors. (2018)
- Evidence-based design and evaluation of a whole genome sequencing clinical report for the reference microbiology laboratory. (2018)
- Quantification of subclonal selection in cancer from bulk sequencing data. (2018)
- Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer. (2018)
- Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
- Enhanced detection of circulating tumor DNA by fragment size analysis. (2018)
- Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
- The Immune Landscape of Cancer. (2018)
- Predicting T cell recognition of MHC class I restricted neoepitopes. (2018)
- Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
- CRAVAT 4: Cancer-Related Analysis of Variants Toolkit. (2017)
- OncoKB: A Precision Oncology Knowledge Base. (2017)
- HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. (2017)
- Universal Patterns of Selection in Cancer and Somatic Tissues. (2017)
- Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors. (2017)
- A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles. (2017)
- Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. (2017)
- Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. (2017)
- A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
- Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential. (2017)
- Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. (2017)
- Tumor phylogeny inference using tree-constrained importance sampling. (2017)
- PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
- Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience. (2017)
- Translating genome-wide association findings into new therapeutics for psychiatry. (2016)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors. (2016)
- Comprehensive analyses of tumor immunity: implications for cancer immunotherapy. (2016)
- Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
- Quantifying Clonal and Subclonal Passenger Mutations in Cancer Evolution. (2016)
- Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. (2015)
- Recurrent somatic mutations in regulatory regions of human cancer genomes. (2015)
- Clock-like mutational processes in human somatic cells. (2015)
- Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. (2015)
- Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. (2015)
- Comprehensive genomic profiles of small cell lung cancer. (2015)
- Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
- MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
- Detecting ultralow-frequency mutations by Duplex Sequencing. (2014)
- RADIA: RNA and DNA integrated analysis for somatic mutation detection. (2014)
- Genome-wide analysis of noncoding regulatory mutations in cancer. (2014)
- Clonal evolution in hematological malignancies and therapeutic implications. (2014)
- In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. (2014)
- The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
- PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. (2014)
- PyClone: statistical inference of clonal population structure in cancer. (2014)
- Cancer genome landscapes. (2013)
- 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)
- Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability. (2013)
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (2013)
- A simple consensus approach improves somatic mutation prediction accuracy. (2013)
- Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. (2013)
- Signatures of mutational processes in human cancer. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
- Emerging landscape of oncogenic signatures across human cancers. (2013)
- A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. (2013)
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
- RNA splicing: a new player in the DNA damage response. (2013)
- An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. (2013)
- Computational approaches to identify functional genetic variants in cancer genomes. (2013)
- Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. (2013)
- The genomic landscape of hypodiploid acute lymphoblastic leukemia. (2013)
- Pan-cancer patterns of somatic copy number alteration. (2013)
- Absolute quantification of somatic DNA alterations in human cancer. (2012)
- The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
- Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions. (2012)
- High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. (2012)
- Mutational processes molding the genomes of 21 breast cancers. (2012)
- AID/APOBEC cytosine deaminase induces genome-wide kataegis. (2012)
- The Pediatric Cancer Genome Project. (2012)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- Genetics of psychiatric disorders methods: molecular approaches. (2010)
- Integrative analysis of the melanoma transcriptome. (2010)
- Analysis of genotype-phenotype correlations in human holoprosencephaly. (2010)
- Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. (2010)
- Gene--environment-wide association studies: emerging approaches. (2010)
- A groupwise association test for rare mutations using a weighted sum statistic. (2009)
- Recurring mutations found by sequencing an acute myeloid leukemia genome. (2009)
- The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
- Marker selection for genetic case-control association studies. (2009)
- Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations. (2009)
- Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
- Perlecan controls neurogenesis in the developing telencephalon. (2007)
- The zebrafish gene map defines ancestral vertebrate chromosomes. (2005)
Merged raw entities (6)
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 |
|---|---|---|---|
| somatic mutations | variant | 54 | 82 |
| somatic mutation | variant | 51 | 98 |
| mutations | variant | 45 | 50 |
| mutation | variant | 38 | 50 |
| rare mutations | variant | 7 | 9 |
| simulated somatic mutations | variant | — | — |