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Page 1
denovo-db: a compendium of human de novo variants.
Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE. Turner TN, et al. Among authors: huddleston j. Nucleic Acids Res. 2017 Jan 4;45(D1):D804-D811. doi: 10.1093/nar/gkw865. Epub 2016 Oct 5. Nucleic Acids Res. 2017. PMID: 27907889 Free PMC article.
Evolution and diversity of copy number variation in the great ape lineage.
Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado-Martinez J; Great Ape Genome Project; Marques-Bonet T, Eichler EE. Sudmant PH, et al. Among authors: huddleston j. Genome Res. 2013 Sep;23(9):1373-82. doi: 10.1101/gr.158543.113. Epub 2013 Jul 3. Genome Res. 2013. PMID: 23825009 Free PMC article.
Rates and patterns of great ape retrotransposition.
Hormozdiari F, Konkel MK, Prado-Martinez J, Chiatante G, Herraez IH, Walker JA, Nelson B, Alkan C, Sudmant PH, Huddleston J, Catacchio CR, Ko A, Malig M, Baker C; Great Ape Genome Project; Marques-Bonet T, Ventura M, Batzer MA, Eichler EE. Hormozdiari F, et al. Among authors: huddleston j. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13457-62. doi: 10.1073/pnas.1310914110. Epub 2013 Jul 24. Proc Natl Acad Sci U S A. 2013. PMID: 23884656 Free PMC article.
Reconstructing complex regions of genomes using long-read sequencing technology.
Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. Huddleston J, et al. Genome Res. 2014 Apr;24(4):688-96. doi: 10.1101/gr.168450.113. Epub 2014 Jan 13. Genome Res. 2014. PMID: 24418700 Free PMC article.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE. Antonacci F, et al. Among authors: huddleston j. Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19. Nat Genet. 2014. PMID: 25326701 Free PMC article.
Single haplotype assembly of the human genome from a hydatidiform mole.
Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK. Steinberg KM, et al. Among authors: huddleston j. Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4. Genome Res. 2014. PMID: 25373144 Free PMC article.
Resolving the complexity of the human genome using single-molecule sequencing.
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. Chaisson MJ, et al. Among authors: huddleston j. Nature. 2015 Jan 29;517(7536):608-11. doi: 10.1038/nature13907. Epub 2014 Nov 10. Nature. 2015. PMID: 25383537 Free PMC article.
Global diversity, population stratification, and selection of human copy-number variation.
Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, Abdullah MS, Bravi CM, Capelli C, Hervig T, Wee JT, Tyler-Smith C, van Driem G, Romero IG, Jha AR, Karachanak-Yankova S, Toncheva D, Comas D, Henn B, Kivisild T, Ruiz-Linares A, Sajantila A, Metspalu E, Parik J, Villems R, Starikovskaya EB, Ayodo G, Beall CM, Di Rienzo A, Hammer MF, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Labuda D, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE. Sudmant PH, et al. Among authors: huddleston j. Science. 2015 Sep 11;349(6253):aab3761. doi: 10.1126/science.aab3761. Epub 2015 Aug 6. Science. 2015. PMID: 26249230 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
464 results