Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2019 1
2020 3
2021 5
2022 3
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
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.
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.
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.
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.
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.
Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.
Lin J, Yang X, Kosters W, Xu T, Jia Y, Wang S, Zhu Q, Ryan M, Guo L, Zhang C; Human Genome Structural Variation Consortium; Lee C, Devine SE, Eichler EE, Ye K. Lin J, et al. Genomics Proteomics Bioinformatics. 2022 Feb;20(1):205-218. doi: 10.1016/j.gpb.2021.03.007. Epub 2021 Jul 3. Genomics Proteomics Bioinformatics. 2022. PMID: 34224879 Free PMC article.
14 results