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Page 1
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson ZB, Storz SHR, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: eichler ee. Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124. Genome Res. 2024. PMID: 39358015 Free PMC article.
A genome-wide survey of structural variation between human and chimpanzee.
Newman TL, Tuzun E, Morrison VA, Hayden KE, Ventura M, McGrath SD, Rocchi M, Eichler EE. Newman TL, et al. Among authors: eichler ee. Genome Res. 2005 Oct;15(10):1344-56. doi: 10.1101/gr.4338005. Epub 2005 Sep 16. Genome Res. 2005. PMID: 16169929 Free PMC article.
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M; NISC Comparative Sequencing Program; Green ED, Archidiacano N, Eichler EE. She X, et al. Among authors: eichler ee. Genome Res. 2006 May;16(5):576-83. doi: 10.1101/gr.4949406. Epub 2006 Apr 10. Genome Res. 2006. PMID: 16606706 Free PMC article.
Haplotype sorting using human fosmid clone end-sequence pairs.
Kidd JM, Cheng Z, Graves T, Fulton B, Wilson RK, Eichler EE. Kidd JM, et al. Among authors: eichler ee. Genome Res. 2008 Dec;18(12):2016-23. doi: 10.1101/gr.081786.108. Epub 2008 Oct 3. Genome Res. 2008. PMID: 18836033 Free PMC article.
De novo rates and selection of large copy number variation.
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. Itsara A, et al. Among authors: eichler ee. Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14. Genome Res. 2010. PMID: 20841430 Free PMC article.
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.
Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, Shendure J, Wilson RK, Eichler EE. Ventura M, et al. Among authors: eichler ee. Genome Res. 2011 Oct;21(10):1640-9. doi: 10.1101/gr.124461.111. Epub 2011 Jun 17. Genome Res. 2011. PMID: 21685127 Free PMC article.
628 results