de novo variant variant
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Related entities (81)
Mentioned in (65)
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)
- A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. (2021)
- Best practices for variant calling in clinical sequencing. (2020)
- Structural variation in the sequencing era. (2020)
- Gestational diabetes induces behavioral and brain gene transcription dysregulation in adult offspring. (2020)
- De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. (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)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (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)
- The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
- Identification of common genetic risk variants for autism spectrum disorder. (2019)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- 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)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
- Environmental factors influencing the risk of autism. (2017)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- De novo variants in sporadic cases of childhood onset schizophrenia. (2016)
- Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. (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)
- The discovery of integrated gene networks for autism and related disorders. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks. (2014)
- Guidelines for investigating causality of sequence variants in human disease. (2014)
- Common DNA methylation alterations in multiple brain regions in autism. (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)
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. (2013)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
- Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012)
- Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. (2012)
- An integrated map of genetic variation from 1,092 human genomes. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. (2012)
- An integrated encyclopedia of DNA elements in the human genome. (2012)
- 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)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. (2011)
- Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. (2010)
- The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
- Finding the missing heritability of complex diseases. (2009)
- Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
- Large recurrent microdeletions associated with schizophrenia. (2008)
- PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
- Holoprosencephaly. (2007)
Merged raw entities (58)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| de novo mutation | variant | 22 | 51 |
| de novo mutations | variant | 14 | 33 |
| single-nucleotide variant | variant | 12 | 13 |
| de novo cnvs | variant | 9 | 32 |
| loss-of-function variants | variant | 9 | 13 |
| de novo variants | variant | 8 | 26 |
| de novo cnv | variant | 7 | 36 |
| loss-of-function variant | variant | 7 | 10 |
| de novo indel | variant | 5 | 7 |
| de novo snv | variant | 5 | 8 |
| de novo variant | variant | 5 | 9 |
| de novo deletion | variant | 4 | 6 |
| de novo point mutations | variant | 4 | 5 |
| de novo copy number variants | variant | 3 | 3 |
| rare de novo cnvs | variant | 3 | 12 |
| de novo copy number variation | variant | 2 | 2 |
| de novo damaging mutations | variant | 2 | 4 |
| de novo damaging variant | variant | 2 | 5 |
| de novo damaging variants | variant | 2 | 6 |
| de novo lgd variant | variant | 2 | 4 |
| de novo lgd variants | variant | 2 | 9 |
| de novo missense variants | variant | 2 | 2 |
| de novo variation | variant | 2 | 4 |
| large de novo cnvs | variant | 2 | 4 |
| damaging de novo variant | variant | 1 | 1 |
| damaging variant | variant | 1 | 2 |
| de novo | variant | 1 | 1 |
| de novo coding variant | variant | 1 | 1 |
| de novo copy number variant | variant | 1 | 1 |
| de novo loss-of-function variant | variant | 1 | 1 |
| lgd variant | variant | 1 | 4 |
| lgd variants | variant | 1 | 2 |
| rare de novo cnv | variant | 1 | 3 |
| spontaneous mutation | variant | 1 | 1 |
| damaging de novo mutations | variant | — | — |
| damaging missense de novo variants | variant | — | — |
| de novo cnv regions | variant | — | — |
| de novo copy-number variant | variant | — | — |
| de novo copy-number variants | variant | — | — |
| de novo copy number variations | variant | — | — |
| de novo damaging (lgd + mis3) variants | variant | — | — |
| de novo events | variant | — | — |
| de novo insertion deletion | variant | — | — |
| de novo insertion-deletion variant | variant | — | — |
| de novo likely gene-disrupting variant | variant | — | — |
| de novo missense damaging variant | variant | — | — |
| de novo single nucleotide variant | variant | — | — |
| denovo variants | variant | — | — |
| insertion deletion | variant | — | — |
| large de novo copy number variants | variant | — | — |
| lgd + mis3 variants | variant | — | — |
| loss-of-function de novo variants | variant | — | — |
| passing de novo | variant | — | — |
| putative de novo cnvs | variant | — | — |
| rare de novo copy number variants | variant | — | — |
| rare de novo copy number variations | variant | — | — |
| rare recurrent de novo cnv | variant | — | — |
| stop codon, frameshift, canonical splice-site variants | variant | — | — |