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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Cell. 2022 May 26;185(11):1986-2005.e26. doi: 10.1016/j.cell.2022.04.017. Epub 2022 May 6.
Cell. 2022.
PMID: 35525246
Free PMC article.
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K; Human Genome Structural Variation Consortium (HGSVC); O'Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C.
Hallast P, et al.
Nature. 2023 Sep;621(7978):355-364. doi: 10.1038/s41586-023-06425-6. Epub 2023 Aug 23.
Nature. 2023.
PMID: 37612510
Free PMC article.
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Inversion polymorphism in a complete human genome assembly.
Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P; Human Pangenome Reference Consortium (HPRC); Human Genome Structural Variation Consortium (HGSVC); Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE.
Porubsky D, et al.
Genome Biol. 2023 Apr 30;24(1):100. doi: 10.1186/s13059-023-02919-8.
Genome Biol. 2023.
PMID: 37122002
Free PMC article.
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The effects of common structural variants on 3D chromatin structure.
Shanta O, Noor A; Human Genome Structural Variation Consortium (HGSVC); Sebat J.
Shanta O, et al.
BMC Genomics. 2020 Jan 30;21(1):95. doi: 10.1186/s12864-020-6516-1.
BMC Genomics. 2020.
PMID: 32000688
Free PMC article.
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muCNV: Genotyping Structural Variants for Population-level Sequencing.
Jun G, Sedlazeck F, Zhu Q, English A, Metcalf G, Kang HM; Human Genome Structural Variation Consortium (HGSVC); Lee C, Gibbs R, Boerwinkle E.
Jun G, et al.
Bioinformatics. 2021 Mar 24;37(14):2055-7. doi: 10.1093/bioinformatics/btab199. Online ahead of print.
Bioinformatics. 2021.
PMID: 33760063
Free PMC article.
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