The DOI matches its Crossref record; 99 of the 100 references it cites were found in a registry or an index.
A copy number variation map of the human genome
Abstract
A major contribution to the genome variability among individuals comes from deletions and duplications — collectively termed copy number variations (CNVs) — which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8–9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.
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“Interestingly, TAD boundaries are significantly less likely (P < 0.02) to be affected by known deletion and duplication polymorphisms derived from genomes of healthy human populations25–27 (Extended Data Fig. 2d).”
From Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) · cites this paper as [25]
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4524 · Cited by 844
Self-citationOxford Nanopore MinION Sequencing and Genome Assembly
Lu, H., Giordano, F., & Ning, Z. (2016) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2016.05.004 · Cited by 1,000
Structural variation in the 3D genome
Spielmann, M., Lupiáñez, D. G., & Mundlos, S. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0007-0 · Cited by 746
Genetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434
Carss, K., Arno, G., Erwood, M., Stephens, J. C., Sanchis‐Juan, A., Hull, S., Mégy, K., Grozeva, D., Dewhurst, E. F., Malka, S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.12.003 · Cited by 467
Metadata
- Authors
- Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W.
- Affiliations
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- Corresponding author
- Scherer, Stephen W.
- Venue
- Nature Reviews Genetics
- Published
- 2015-02-03
- Volume
- 16
- Issue
- 3
- Pages
- 172-183
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2034197594
- Semantic Scholar
- 1041ea8e25df9256cca423a729e9013ca2419c1f
- Cited by
- 921
- References
- 100
- Citations by year
- 2026: 29 · 2025: 60 · 2024: 80 · 2023: 72 · 2022: 83 · 2021: 92 · 2020: 84 · 2019: 113 · 2018: 126 · 2017: 88 · 2016: 68 · 2015: 25
- FWCI
- 13.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- copy number variation, human genome, genomic deletions, genomic duplication, healthy individuals, ethnic differences, phenotypic consequences, adaptive traits
- MeSH terms
- Chromosome Mapping, DNA, Genotype, Humans, Phenotype, Genome, Human, Gene Deletion, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Gene Duplication, Genetic Association Studies, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing
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