structural variant cohort
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Related entities (16)
Mentioned in (122)
Papers in which this entity is mentioned.
- Whole-genome landscapes of 1,364 breast cancers. (2026)
- LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development. (2025)
- Annotating the genome at single-nucleotide resolution with DNA foundation models. (2025)
- Enhancer activation from transposable elements in extrachromosomal DNA. (2025)
- ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
- Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
- Tumor-informed deep sequencing of ctDNA detects minimal residual disease and predicts relapse in osteosarcoma. (2024)
- Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (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)
- The landscape of drug sensitivity and resistance in sarcoma. (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)
- Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology. (2024)
- The Application of Long-Read Sequencing to Cancer. (2024)
- Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types from 10,983 cancer patients (2023)
- Deterministic evolution and stringent selection during preneoplasia. (2023)
- Multiomic prioritisation of risk genes for anorexia nervosa. (2023)
- A survey of mapping algorithms in the long-reads era. (2023)
- The Collaborative Study on the Genetics of Alcoholism: Overview. (2023)
- Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers. (2023)
- Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA. (2022)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- The complete sequence of a human genome. (2022)
- Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
- Large-scale collaboration in ENIGMA-EEG: A perspective on the meta-analytic approach to link neurological and psychiatric liability genes to electrophysiological brain activity. (2021)
- Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. (2021)
- Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. (2021)
- Application of third-generation sequencing in cancer research. (2021)
- Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
- A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
- A Comprehensive Circulating Tumor DNA Assay for Detection of Translocation and Copy-Number Changes in Pediatric Sarcomas. (2021)
- Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
- Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
- Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
- Polygenic risk scores: from research tools to clinical instruments. (2020)
- 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)
- SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
- Pan-cancer analysis of whole genomes. (2020)
- Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (2020)
- Inferring structural variant cancer cell fraction. (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)
- 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)
- Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
- Genome-Informed Targeted Therapy for Osteosarcoma. (2019)
- Structural variant calling: the long and the short of it. (2019)
- Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
- CNVScope: Visually Exploring Copy Number Aberrations in Cancer Genomes. (2019)
- Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
- Identifying simultaneous rearrangements in cancer genomes. (2018)
- Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. (2018)
- Detection of Somatic Structural Variants Enables Quantification and Characterization of Circulating Tumor DNA in Children With Solid Tumors. (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)
- 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)
- 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)
- Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (2017)
- SVclone: inferring structural variant cancer cell fraction (2017)
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (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)
- Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. (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)
- 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)
- 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)
- Genetic and environmental influences interact with age and sex in shaping the human methylome. (2016)
- Recurrent somatic mutations in regulatory regions of human cancer genomes. (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)
- Genetics and genomics of psychiatric disease. (2015)
- A global reference for human genetic variation. (2015)
- Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. (2014)
- VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
- Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
- Genome-wide association discoveries of alcohol dependence. (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)
- Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. (2013)
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- The genomic landscape of hypodiploid acute lymphoblastic leukemia. (2013)
- Large-scale objective phenotyping of 3D facial morphology. (2012)
- The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
- Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome 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)
- The Pediatric Cancer Genome Project. (2012)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
- Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. (2011)
- Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
- Statistical analysis strategies for association studies involving rare variants. (2010)
- 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)
- Finding the missing heritability of complex diseases. (2009)
- Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
- The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
- Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (2009)
- Sensitive and accurate detection of copy number variants using read depth of coverage. (2009)
- Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
- PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
- Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)
Merged raw entities (8)
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 |
|---|---|---|---|
| structural variant | variant | 79 | 187 |
| structural variants | variant | 51 | 70 |
| structural variation | variant | 45 | 54 |
| structural variant | cohort | — | — |
| structural variants | cohort | — | — |
| structural variation | cohort | — | — |
| sv | cohort | — | — |
| svs | cohort | — | — |