de novo variant variant

Aliases

CNV, LGD, LGD + Mis3 variants, LGD variant, LGD variants, SNV, copy number variation, damaging de novo mutations, damaging de novo variant, damaging missense de novo variants, damaging variant, de novo, de novo CNV, de novo CNV regions, de novo CNVs, de novo LGD variants, de novo coding variant, de novo copy number variant, de novo copy number variants, de novo copy number variation, de novo copy number variations, de novo copy-number variant, de novo copy-number variants, de novo damaging (LGD + Mis3) variants, de novo damaging variants, de novo events, de novo insertion deletion, de novo insertion-deletion variant, de novo likely gene-disrupting variant, de novo loss-of-function variant, de novo missense damaging variant, de novo mutation, de novo mutations, de novo single nucleotide variant, de novo variant, de novo variants, de novo variation, denovo variants, indel, insertion deletion, insertion/deletion, large de novo copy number variants, loss-of-function de novo variants, loss-of-function variant, loss-of-function variants, passing de novo, putative de novo CNV, putative de novo CNVs, rare de novo CNV, rare de novo copy number variants, rare de novo copy number variations, rare recurrent de novo CNV, single nucleotide variant, single-nucleotide variant, spontaneous mutation, stop codon, frameshift, canonical splice-site variants

External links

ClinVar

Related entities (1)

Mentioned in (33)

Papers in which this entity is mentioned.

• Genome modelling and design across all domains of life with Evo 2. (2026)
• Specificity, length and luck drive gene rankings in association studies. (2026)
• Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. (2025)
• Transcription start sites experience a high influx of heritable variants fueled by early development. (2025)
• Alcohol Use Disorder Polygenic Score Compared With Family History and ADH1B. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• mutations, genetic mosaicism and human disease. (2022)
• Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
• A Comprehensive Circulating Tumor DNA Assay for Detection of Translocation and Copy-Number Changes in Pediatric Sarcomas. (2021)
• Best practices for variant calling in clinical sequencing. (2020)
• Structural variation in the sequencing era. (2020)
• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• Provocative questions in osteosarcoma basic and translational biology: A report from the Children's Oncology Group. (2019)
• CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers. (2019)
• Rare variant phasing using paired tumor:normal sequence data. (2019)
• 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-wide somatic variant calling using localized colored de Bruijn graphs. (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)
• Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Three decades of nanopore sequencing. (2016)
• APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication. (2016)
• The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
• Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks. (2014)
• DNA-Mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): a catalog of clinically relevant cancer mutations to enable genome-directed anticancer therapy. (2013)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
• PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)

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