ArticleNature genetics2024
Protein-altering variants at copy number-variable regions influence diverse human phenotypes.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Genetic landscape of congenital pouch colon: systematic review and functional enrichment study.Pediatric surgery international · 2024Pooled it
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Determinants of functional burden pleiotropy and gene dosage responses across human traits.Nature communications · 2026Article
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Genetic variants affect diurnal glucose levels throughout the day.Nature communications · 2026Article
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- Haplotype-resolved genome assemblies of BJ and IMR-90 human fibroblast cell lines reveal extensive structural variation and enable reanalysis of historical sequencing data.Nucleic acids research · 2026Article
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- Precision nutrition for hypertension: tea, coffee, antioxidant vitamins interactions with polygenic risk in multi-ethnic populations.European journal of clinical nutrition · 2026Article
- Morning Larks and Night Owls: Considering Chronotype in Evaluation of Patients with Pulmonary Hypertension.Annals of the American Thoracic Society · 2026Article
- Selected Emerging Biomarkers in Type 2 Diabetes Mellitus: Clinical Insights and Implications for Precision Care.Medicina (Kaunas, Lithuania) · 2026Review
- Article
- The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.International journal of women's health · 2026Article
- MultiSuSiE improves multi-ancestry fine-mapping in All of Us whole-genome sequencing data.Nature genetics · 2026Article
- Chymotrypsin Deficiency Accelerates Precancerous Remodeling of the Pancreas in KC Mice.Pancreas · 2026Article
- Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes.Nature genetics · 2025Article
- MisfoldingAmerican journal of physiology. Gastrointestinal and liver physiology · 2025Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
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Abstract
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank whole-exome sequencing data (n = 468,570) using haplotype-informed methods capable of detecting subexonic CNVs and variation within segmental duplications. Incorporating CNVs into analyses of rare variants predicted to cause gene loss of function (LOF) identified 100 associations of predicted LOF variants with 41 quantitative traits. A low-frequency partial deletion of RGL3 exon 6 conferred one of the strongest protective effects of gene LOF on hypertension risk (odds ratio = 0.86 (0.82-0.90)). Protein-coding variation in rapidly evolving gene families within segmental duplications-previously invisible to most analysis methods-generated some of the human genome's largest contributions to variation in type 2 diabetes risk, chronotype and blood cell traits. These results illustrate the potential for new genetic insights from genomic variation that has escaped large-scale analysis to date.
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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 OpenQuestion graph.