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21 results

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Page 1
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E; Human Genome Structural Variation Consortium; Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC. Byrska-Bishop M, et al. Cell. 2022 Sep 1;185(18):3426-3440.e19. doi: 10.1016/j.cell.2022.08.004. Cell. 2022. PMID: 36055201 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.
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.
Yilmaz F, Karageorgiou C, Kim K, Pajic P, Scheer K; Human Genome Structural Variation Consortium; Beck CR, Torregrossa AM, Lee C, Gokcumen O, Audano PA, Austine-Orimoloye O, Beck CR, Eichler EE, Hallast P, Harvey WT, Hastie AR, Hoekzema K, Hunt S, Korbel JO, Kordosky J, Lee C, Lewis AP, Marschall T, Munson KM, Pang A, Yilmaz F. Yilmaz F, et al. Science. 2024 Nov 22;386(6724):eadn0609. doi: 10.1126/science.adn0609. Epub 2024 Nov 22. Science. 2024. PMID: 39418342
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J; Human Genome Structural Variation Consortium; Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME. Zhao X, et al. Am J Hum Genet. 2021 May 6;108(5):919-928. doi: 10.1016/j.ajhg.2021.03.014. Epub 2021 Mar 30. Am J Hum Genet. 2021. PMID: 33789087 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. Update in: Nat Genet. 2025 Feb;57(2):390-401. doi: 10.1038/s41588-024-02051-8. PMID: 38895457 Free PMC article. Updated. Preprint.
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.
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, Munson KM, Sorensen M, Sulovari A, Haukness M, Ghareghani M; Human Genome Structural Variation Consortium; Lansdorp PM, Paten B, Devine SE, Sanders AD, Lee C, Chaisson MJP, Korbel JO, Eichler EE, Marschall T. Porubsky D, et al. Nat Biotechnol. 2021 Mar;39(3):302-308. doi: 10.1038/s41587-020-0719-5. Epub 2020 Dec 7. Nat Biotechnol. 2021. PMID: 33288906 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. Nat Genet. 2025 Feb;57(2):390-401. doi: 10.1038/s41588-024-02051-8. Epub 2025 Jan 8. Nat Genet. 2025. PMID: 39779957 Free PMC article.
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.
21 results