structural variant cohort

Aliases

SV, SVs, structural variants, structural variation

Related entities (1)

Mentioned in (102)

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)
• 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)
• 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)
• 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)
• VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
• Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
• The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
• The genomic landscape of hypodiploid acute lymphoblastic leukemia. (2013)
• Large-scale objective phenotyping of 3D facial morphology. (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)
• 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)
• Sensitive and accurate detection of copy number variants using read depth of coverage. (2009)
• 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)

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