indel variant

Aliases

INDELS, INDELs, deletion, indels, insertion, insertion deletion, insertion-deletion, insertion-deletion variant, insertion/deletion, insertion/deletion polymorphisms, insertions/deletions, small insertions or deletions

External links

ClinVar

Related entities (3)

Mentioned in (116)

Papers in which this entity is mentioned.

• Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. (2026)
• Advancing regulatory variant effect prediction with AlphaGenome. (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)
• Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States. (2025)
• FET fusion oncoproteins disrupt physiologic DNA repair and create a targetable opportunity for ATR inhibitor therapy. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (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)
• Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (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)
• Benchmarking short and long read polishing tools for nanopore assemblies: achieving near-perfect genomes for outbreak isolates. (2024)
• Proving sequence aligners can guarantee accuracy in almost ( log ) time through an average-case analysis of the seed-chain-extend heuristic. (2023)
• Machine learning for genetics-based classification and treatment response prediction in cancer of unknown primary. (2023)
• A survey of mapping algorithms in the long-reads era. (2023)
• Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers. (2023)
• Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors. (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)
• 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)
• 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)
• Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• The repertoire of mutational signatures in human cancer. (2020)
• Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. (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)
• Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers. (2019)
• The mutational footprints of cancer therapies. (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)
• Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study. (2019)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
• HLA*LA-HLA typing from linearly projected graph alignments. (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)
• A Compendium of Mutational Signatures of Environmental Agents. (2019)
• Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
• Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
• Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer. (2018)
• Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• The Immune Landscape of Cancer. (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)
• Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
• The fractured landscape of RNA-seq alignment: the default in our STARs. (2018)
• SvABA: genome-wide detection of structural variants and indels by local assembly. (2018)
• Patterns and mechanisms of structural variations in human cancer. (2018)
• Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
• Copy number signatures and mutational processes in ovarian carcinoma. (2018)
• Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (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 Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. (2017)
• Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
• GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. (2017)
• The fractured landscape of RNA-seq alignment: The default in our STARs (2017)
• Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. (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)
• PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
• The impact of structural variation on human gene expression. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• 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)
• KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. (2016)
• Landscape of somatic mutations in 560 breast cancer whole-genome sequences. (2016)
• A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease. (2016)
• Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). (2016)
• Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
• GenVisR: Genomic Visualizations in R. (2016)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• A global reference for human genetic variation. (2015)
• Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. (2015)
• RADIA: RNA and DNA integrated analysis for somatic mutation detection. (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)
• Signatures of mutational processes in human cancer. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (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)
• High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. (2012)
• Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. (2012)
• Mutational processes molding the genomes of 21 breast cancers. (2012)
• Novel mutations target distinct subgroups of medulloblastoma. (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)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• Fast and accurate long-read alignment with Burrows-Wheeler transform. (2010)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• VarScan: variant detection in massively parallel sequencing of individual and pooled samples. (2009)

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