Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).

Article  PubMed  Google Scholar 

Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989).

Article  CAS  PubMed  Google Scholar 

Wang, D. G. et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077–1082 (1998).

Article  CAS  PubMed  Google Scholar 

Altshuler, D., Donnelly, P. & The International HapMap Consortium.A haplotype map of the human genome. Nature 437, 1299–1320 (2005).

Article  Google Scholar 

Alkan, C., Coe, B. P. & Eichler, E. E. Genome structural variation discovery and genotyping. Nat. Rev. Genet. 12, 363–376 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ho, S. S., Urban, A. E. & Mills, R. E. Structural variation in the sequencing era. Nat. Rev. Genet. 21, 171–189 (2020).

Article  CAS  PubMed  Google Scholar 

Kosugi, S. et al. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing. Genome Biol. 20, 117 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Feuk, L., Carson, A. R. & Scherer, S. W. Structural variation in the human genome. Nat. Rev. Genet. 7, 85–97 (2006).

Article  CAS  PubMed  Google Scholar 

Sudmant, P. H. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526, 75–81 (2015). This paper describes the phase 3 SV release of the 1000 Genomes Project, which provided an unprecedented level of insight into the diversity of SVs in the global human population and has stood as one of the gold-standard multi-ancestry data sets in the SV field over the subsequent decade.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Korbel, J. O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420–426 (2007).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Riggs, E. R. et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet. Med. 22, 245–257 (2020).

Article  PubMed  Google Scholar 

Jacobs, P. A., Baikie, A. G., Court Brown, W. M. & Strong, J. A. The somatic chromosomes in mongolism. Lancet 1, 710 (1959).

Article  CAS  PubMed  Google Scholar 

Tjio, J. H. & Levan, A. The chromosome number of man. Hereditas 42, 1–6 (1956).

Article  Google Scholar 

Warburton, D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49, 995–1013 (1991).

CAS  PubMed  PubMed Central  Google Scholar 

Cohen, A. J. et al. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N. Engl. J. Med. 301, 592–595 (1979).

Article  CAS  PubMed  Google Scholar 

Funderburk, S. J., Spence, M. A. & Sparkes, R. S. Mental retardation associated with “balanced” chromosome rearrangements. Am. J. Hum. Genet. 29, 136–141 (1977).

CAS  PubMed  PubMed Central  Google Scholar 

Hou, J.-W., Wang, T.-R. & Chuang, S.-M. An epidemiological and aetiological study of children with intellectual disability in Taiwan. J. Intellect. Disabil. Res. 42, 137–143 (1998).

Article  PubMed  Google Scholar 

Knight, S. J. L. et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354, 1676–1681 (1999).

Article  CAS  PubMed  Google Scholar 

Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949–951 (2004).

Article  CAS  PubMed  Google Scholar 

Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525–528 (2004).

Article  CAS  PubMed  Google Scholar 

Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444–454 (2006).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704–712 (2010).

Article  CAS  PubMed  Google Scholar 

McCarroll, S. A. et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40, 1166–1174 (2008).

Article  CAS  PubMed  Google Scholar 

Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E. & Pritchard, J. K. A high-resolution survey of deletion polymorphism in the human genome. Nat. Genet. 38, 75–81 (2006).

Article  CAS  PubMed  Google Scholar 

Mills, R. E. et al. Mapping copy number variation by population-scale genome sequencing. Nature 470, 59–65 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hehir-Kwa, J. Y. et al. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat. Commun. 7, 12989 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sudmant, P. H. et al. Global diversity, population stratification, and selection of human copy-number variation. Science 349, aab3761 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444–451 (2020). This paper describes the initial SV component of the gnomAD, which is a widely adopted reference resource for evaluating the frequencies and distributions of genetic variation in the human population.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83–89 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Almarri, M. A. et al. Population structure, stratification, and introgression of human structural variation. Cell 182, 189–199 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Byrska-Bishop, M. et al. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell 185, 3426–3440 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Miga, K. H. et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature 585, 79–84 (2020).

Article  CAS  PubMed  PubMed Central