# Genomic variations and chromosomal abnormalities

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11213 |
| Works | 235 |

## Topic papers all

Showing 15 of 235.

- [ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data](https://scholariq.org/papers/annovar-functional-annotation-of-genetic-variants-from-high-throughput/)
- [Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls](https://scholariq.org/papers/genome-wide-association-study-of-14-000-cases-of-seven-common-diseases-and-3-000/)
- [Construction of a genetic linkage map in man using restriction fragment length polymorphisms.](https://scholariq.org/papers/construction-of-a-genetic-linkage-map-in-man-using-restriction-fragment-length/)
- [A map of human genome variation from population-scale sequencing](https://scholariq.org/papers/a-map-of-human-genome-variation-from-population-scale-sequencing-2/)
- [The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups](https://scholariq.org/papers/the-genomic-and-transcriptomic-architecture-of-2-000-breast-tumours-reveals/)
- [The International HapMap Project](https://scholariq.org/papers/the-international-hapmap-project/)
- [The landscape of somatic copy-number alteration across human cancers](https://scholariq.org/papers/the-landscape-of-somatic-copy-number-alteration-across-human-cancers/)
- [Detection of large-scale variation in the human genome](https://scholariq.org/papers/detection-of-large-scale-variation-in-the-human-genome/)
- [Strong Association of De Novo Copy Number Mutations with Autism](https://scholariq.org/papers/strong-association-of-de-novo-copy-number-mutations-with-autism/)
- [Mapping genomic loci implicates genes and synaptic biology in schizophrenia](https://scholariq.org/papers/mapping-genomic-loci-implicates-genes-and-synaptic-biology-in-schizophrenia/)
- [An integrated map of structural variation in 2,504 human genomes](https://scholariq.org/papers/an-integrated-map-of-structural-variation-in-2-504-human-genomes/)
- [Identification of common genetic risk variants for autism spectrum disorder](https://scholariq.org/papers/identification-of-common-genetic-risk-variants-for-autism-spectrum-disorder/)
- [Functional impact of global rare copy number variation in autism spectrum disorders](https://scholariq.org/papers/functional-impact-of-global-rare-copy-number-variation-in-autism-spectrum/)
- [Genomewide Association Analysis of Coronary Artery Disease](https://scholariq.org/papers/genomewide-association-analysis-of-coronary-artery-disease/)
- [Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease](https://scholariq.org/papers/large-scale-meta-analysis-of-genome-wide-association-data-identifies-six-new/)

## Topic primary papers

Showing 15 of 72.

- [Detection of large-scale variation in the human genome](https://scholariq.org/papers/detection-of-large-scale-variation-in-the-human-genome/)
- [Strong Association of De Novo Copy Number Mutations with Autism](https://scholariq.org/papers/strong-association-of-de-novo-copy-number-mutations-with-autism/)
- [Functional impact of global rare copy number variation in autism spectrum disorders](https://scholariq.org/papers/functional-impact-of-global-rare-copy-number-variation-in-autism-spectrum/)
- [PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data](https://scholariq.org/papers/penncnv-an-integrated-hidden-markov-model-designed-for-high-resolution-copy/)
- [Large recurrent microdeletions associated with schizophrenia](https://scholariq.org/papers/large-recurrent-microdeletions-associated-with-schizophrenia/)
- [Association between Microdeletion and Microduplication at 16p11.2 and Autism](https://scholariq.org/papers/association-between-microdeletion-and-microduplication-at-16p11-2-and-autism/)
- [Rare chromosomal deletions and duplications increase risk of schizophrenia](https://scholariq.org/papers/rare-chromosomal-deletions-and-duplications-increase-risk-of-schizophrenia/)
- [Autism genome-wide copy number variation reveals ubiquitin and neuronal genes](https://scholariq.org/papers/autism-genome-wide-copy-number-variation-reveals-ubiquitin-and-neuronal-genes/)
- [Genome-wide analysis of DNA copy-number changes using cDNA microarrays](https://scholariq.org/papers/genome-wide-analysis-of-dna-copy-number-changes-using-cdna-microarrays/)
- [Copy Number Variation in Human Health, Disease, and Evolution](https://scholariq.org/papers/copy-number-variation-in-human-health-disease-and-evolution/)
- [Mapping copy number variation by population-scale genome sequencing](https://scholariq.org/papers/mapping-copy-number-variation-by-population-scale-genome-sequencing/)
- [Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects](https://scholariq.org/papers/contribution-of-copy-number-variants-to-schizophrenia-from-a-genome-wide-study/)
- [Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants](https://scholariq.org/papers/genome-wide-association-of-early-onset-myocardial-infarction-with-single/)
- [Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders](https://scholariq.org/papers/convergence-of-genes-and-cellular-pathways-dysregulated-in-autism-spectrum/)
- [Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls](https://scholariq.org/papers/genome-wide-association-study-of-cnvs-in-16-000-cases-of-eight-common-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.