duplication variant

Aliases

duplications

External links

ClinVar

Related entities (10)

Mentioned in (56)

Papers in which this entity is mentioned.

• Genome modelling and design across all domains of life with Evo 2. (2026)
• Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort. (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)
• The Application of Long-Read Sequencing to Cancer. (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)
• Variant interpretation using population databases: Lessons from gnomAD. (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)
• 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)
• Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• Pan-cancer landscape of homologous recombination deficiency. (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)
• 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)
• Hippocampal deficits in neurodevelopmental disorders. (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)
• Patterns and mechanisms of structural variations in human cancer. (2018)
• Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
• Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
• Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (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)
• 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)
• A global reference for human genetic variation. (2015)
• A global reference for human genetic variation. (2015)
• Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
• Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
• Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
• A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
• Hand in glove: brain and skull in development and dysmorphogenesis. (2013)
• Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. (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)
• High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. (2011)
• Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. (2011)
• Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. (2009)
• The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
• Sensitive and accurate detection of copy number variants using read depth of coverage. (2009)
• Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)

Merged raw entities (2)

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