ArticleGenetics and molecular biology2020
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.
Article in Genetics and molecular biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.Journal of assisted reproduction and genetics · 2024Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- Frequent copy number variants in a cohort of Mexican-Mestizo individuals.Molecular cytogenetics · 2023Article
- Copy number variant analysis for syndromic congenital heart disease in the Chinese population.Human genomics · 2022Article
- Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.Investigative ophthalmology & visual science · 2022Article
- HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity.Frontiers in genetics · 2021Article
- Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.Saudi journal of medicine & medical sciencesArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the CNV databases are predominantly composed of European and non-admixed individuals, and Brazilian genetic constitution is admixed and ethnically diverse, diagnostic screenings on Brazilian variants are greatly difficulted by the lack of populational references. We analyzed a clinical sample of 268 Brazilian individuals, including patients with neurodevelopment disorders and/or congenital malformations. The pathogenicity of CNVs was classified according to their gene content and overlap with known benign and pathogenic variants. A total of 1,504 autosomal CNVs (1,207 gains and 297 losses) were classified as benign (92.9%), likely benign (1.6%), VUS (2.6%), likely pathogenic (0.2%) and pathogenic (2.7%). Some of the CNVs were recurrent and with frequency increased in our sample, when compared to populational open resources of structural variants: 14q32.33, 22q11.22, 1q21.1, and 1p36.32 gains. Thus, these highly recurrent CNVs classified as likely benign or VUS were considered non-pathogenic in our Brazilian sample. This study shows the relevance of introducing CNV data from diverse cohorts to improve on the interpretation of clinical impact of genomic variations.
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Registered trials
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