inversion variant

Aliases

inversions

External links

ClinVar

Related entities (3)

Mentioned in (43)

Papers in which this entity is mentioned.

• Three-dimensional genome landscape of primary human cancers. (2025)
• ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• 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)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• Structural variation in the sequencing era. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (2020)
• Pan-cancer landscape of homologous recombination deficiency. (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)
• 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)
• Identifying simultaneous rearrangements in cancer genomes. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (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)
• The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. (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)
• 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)
• 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 global reference for human genetic variation. (2015)
• A global reference for human genetic variation. (2015)
• Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. (2015)
• 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)
• 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)
• DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
• Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. (2011)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• How local is the local field potential? (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)
• Finding the missing heritability of complex diseases. (2009)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)

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