inversions variant

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ClinVar

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Mentioned in (31)

Papers in which this entity is mentioned.

• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• The Application of Long-Read Sequencing to Cancer. (2024)
• Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers. (2023)
• mutations, genetic mosaicism and human disease. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (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)
• Inferring structural variant cancer cell fraction. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Highly Efficient CRISPR-Cas9-Based Methods for Generating Deletion Mutations and F0 Embryos that Lack Gene Function in Zebrafish. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (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)
• SVclone: inferring structural variant cancer cell fraction (2017)
• Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. (2017)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• The impact of structural variation on human gene expression. (2017)
• Copy-number signatures and mutational processes in ovarian carcinoma (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)
• 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)
• 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)
• Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
• Genetic and environmental factors in complex neurodevelopmental disorders. (2007)

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