ArticleCell genomics2022
CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.
Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.Current osteoporosis reports · 2025Review
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.JCI insight · 2024Article
- The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.The Journal of clinical endocrinology and metabolism · 2024Article
- Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells.Nature genetics · 2024Article
- Protein-altering variants at copy number-variable regions influence diverse human phenotypes.Nature genetics · 2024Article
- Rare copy-number variants as modulators of common disease susceptibility.Genome medicine · 2024Article
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.Nature genetics · 2023Article
- Hidden protein-altering variants influence diverse human phenotypes.bioRxiv : the preprint server for biology · 2023Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic acids research · 2023Article
- Enrichment analysis and chromosomal distribution of gout susceptible loci identified by genome-wide association studies.EXCLI journal · 2023Article
- The individual and global impact of copy-number variants on complex human traits.American journal of human genetics · 2022Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Copy number variation (CNV) is known to influence human traits, having a rich history of research into common and rare genetic disease, and although CNV is accepted as an important class of genomic variation, progress on copy-number-based genome-wide association studies (GWASs) from next-generation sequencing (NGS) data has been limited. Here we present a novel method for large-scale copy number analysis from NGS data generating robust copy number estimates and allowing copy number GWASs (CN-GWASs) to be performed genome-wide in discovery mode. We provide a detailed analysis in the UK Biobank resource and a specifically designed software package. We use these methods to perform CN-GWAS analysis across 78 human traits, discovering over 800 genetic associations that are likely to contribute strongly to trait distributions. Finally, we compare CNV and SNP association signals across the same traits and samples, defining specific CNV association classes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.