deletion variant
Evidence from:
primary |
all sources
Related entities (1)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| deletion | associated_with | Geneva | — | 1 |
Mentioned in (96)
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)
- Three-dimensional genome landscape of primary human cancers. (2025)
- ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
- Genome-wide association testing beyond SNPs. (2025)
- 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)
- A harmonized public resource of deeply sequenced diverse human genomes. (2024)
- 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)
- Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
- Variant interpretation using population databases: Lessons from gnomAD. (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)
- Application of third-generation sequencing in cancer research. (2021)
- Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
- Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
- Biologically informed deep neural network for prostate cancer discovery. (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)
- SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (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)
- Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (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)
- Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (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)
- Rare variant phasing using paired tumor:normal sequence data. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
- Genome-Informed Targeted Therapy for Osteosarcoma. (2019)
- Structural variant calling: the long and the short of it. (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)
- Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
- Identifying simultaneous rearrangements in cancer genomes. (2018)
- Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. (2018)
- Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
- Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
- Nanopore sequencing and assembly of a human genome with ultra-long reads. (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)
- 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)
- The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. (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)
- 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)
- GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. (2017)
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
- PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
- The impact of structural variation on human gene expression. (2017)
- Copy-number signatures and mutational processes in ovarian carcinoma (2017)
- Fast and Accurate Genomic Analyses using Genome Graphs (2017)
- Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors. (2016)
- Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers. (2016)
- Landscape of somatic mutations in 560 breast cancer whole-genome sequences. (2016)
- The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
- Three decades of nanopore sequencing. (2016)
- ENVE: a novel computational framework characterizes copy-number mutational landscapes in colorectal cancers from African American patients. (2015)
- A global reference for human genetic variation. (2015)
- Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. (2015)
- CONSERTING: integrating copy-number analysis with structural-variation detection. (2015)
- HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. (2015)
- Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
- Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
- TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. (2014)
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
- Emerging landscape of oncogenic signatures across human cancers. (2013)
- A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
- Pan-cancer patterns of somatic copy number alteration. (2013)
- An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. (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)
- DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
- Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. (2012)
- Detectable clonal mosaicism from birth to old age and its relationship to cancer. (2012)
- A hidden Markov model for copy number variant prediction from whole genome resequencing data. (2011)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
- Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
- BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
- Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
- Sensitive and accurate detection of copy number variants using read depth of coverage. (2009)
- MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. (2008)
Merged raw entities (5)
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 |
|---|---|---|---|
| deletion | variant | 87 | 169 |
| deletions | variant | 48 | 82 |
| deletions | phenotype | 12 | 13 |
| large deletions | variant | 7 | 7 |
| 5 largest putative deletions | variant | — | — |