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Copy number variation detection and genotyping from exome sequence data.
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project; Quinlan AR, Nickerson DA, Eichler EE. Krumm N, et al. Among authors: eichler ee. Genome Res. 2012 Aug;22(8):1525-32. doi: 10.1101/gr.138115.112. Epub 2012 May 14. Genome Res. 2012. PMID: 22585873 Free PMC article.
Segmental duplications and copy-number variation in the human genome.
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE. Sharp AJ, et al. Among authors: eichler ee. Am J Hum Genet. 2005 Jul;77(1):78-88. doi: 10.1086/431652. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918152 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.
High-throughput genotyping of intermediate-size structural variation.
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. Newman TL, et al. Among authors: eichler ee. Hum Mol Genet. 2006 Apr 1;15(7):1159-67. doi: 10.1093/hmg/ddl031. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497726
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.
Structural variation of the human genome.
Sharp AJ, Cheng Z, Eichler EE. Sharp AJ, et al. Among authors: eichler ee. Annu Rev Genomics Hum Genet. 2006;7:407-42. doi: 10.1146/annurev.genom.7.080505.115618. Annu Rev Genomics Hum Genet. 2006. PMID: 16780417 Review.
Completing the map of human genetic variation.
Human Genome Structural Variation Working Group; Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Human Genome Structural Variation Working Group, et al. Among authors: eichler ee. Nature. 2007 May 10;447(7141):161-5. doi: 10.1038/447161a. Nature. 2007. PMID: 17495918 Free PMC article. No abstract available.
Mapping and sequencing of structural variation from eight human genomes.
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. Kidd JM, et al. Among authors: eichler ee. Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862. Nature. 2008. PMID: 18451855 Free PMC article.
613 results