insertion variant

Aliases

1 bp insertion, insertions

External links

ClinVar

Related entities (1)

Mentioned in (37)

Papers in which this entity is mentioned.

• 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)
• Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Detection of somatic structural variants from short-read next-generation sequencing data. (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)
• The repertoire of mutational signatures in human cancer. (2020)
• Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
• A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Best practices for bioinformatic characterization of neoantigens for clinical utility. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. (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)
• Predicting T cell recognition of MHC class I restricted neoepitopes. (2018)
• The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. (2018)
• Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (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)
• The impact of structural variation on human gene expression. (2017)
• HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. (2015)
• 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)
• Mutational processes molding the genomes of 21 breast cancers. (2012)
• High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. (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)

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