mutations variant

Aliases

allele, simulated somatic mutations, somatic mutations

External links

ClinVar

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Mentioned in (111)

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)
• 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)
• 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)
• 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)
• 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)
• 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)
• 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)
• The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (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)
• Emerging landscape of oncogenic signatures across human cancers. (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)
• 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)
• 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)
• Integrative analysis of the melanoma transcriptome. (2010)
• Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. (2010)
• Recurring mutations found by sequencing an acute myeloid leukemia genome. (2009)
• Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations. (2009)

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