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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q; Human Genome Structural Variation Consortium (HGSVC); Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO. Porubsky D, et al. 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.
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.
Structural polymorphism and diversity of human segmental duplications.
Jeong H, Dishuck PC, Yoo D, Harvey WT, Munson KM, Lewis AP, Kordosky J, Garcia GH; Human Genome Structural Variation Consortium (HGSVC); Yilmaz F, Hallast P, Lee C, Pastinen T, Eichler EE. Jeong H, et al. bioRxiv [Preprint]. 2024 Jun 6:2024.06.04.597452. doi: 10.1101/2024.06.04.597452. bioRxiv. 2024. PMID: 38895457 Free PMC article. Preprint.
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 Aug 4;37(14):2055–2057. doi: 10.1093/bioinformatics/btab199. Epub 2021 Mar 24. Bioinformatics. 2021. PMID: 33760063 Free PMC article.
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes.
Li C, Bonder MJ, Syed S, Jensen M; Human Genome Structural Variation Consortium (HGSVC); HGSVC Functional Analysis Working Group; Gerstein MB, Zody MC, Chaisson MJP, Talkowski ME, Marschall T, Korbel JO, Eichler EE, Lee C, Shi X. Li C, et al. Genome Res. 2024 Dec 23;34(12):2304-2318. doi: 10.1101/gr.279419.124. Genome Res. 2024. PMID: 39638559