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Towards a comprehensive structural variation map of an individual human genome.
Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW. Pang AW, et al. Among authors: kirkness ef. Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19. Genome Biol. 2010. PMID: 20482838 Free PMC article.
The diploid genome sequence of an individual human.
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. Levy S, et al. Among authors: kirkness ef. PLoS Biol. 2007 Sep 4;5(10):e254. doi: 10.1371/journal.pbio.0050254. PLoS Biol. 2007. PMID: 17803354 Free PMC article.
The HuRef Browser: a web resource for individual human genomics.
Axelrod N, Lin Y, Ng PC, Stockwell TB, Crabtree J, Huang J, Kirkness E, Strausberg RL, Frazier ME, Venter JC, Kravitz S, Levy S. Axelrod N, et al. Nucleic Acids Res. 2009 Jan;37(Database issue):D1018-24. doi: 10.1093/nar/gkn939. Epub 2008 Nov 26. Nucleic Acids Res. 2009. PMID: 19036787 Free PMC article.
The dog genome: survey sequencing and comparative analysis.
Kirkness EF, Bafna V, Halpern AL, Levy S, Remington K, Rusch DB, Delcher AL, Pop M, Wang W, Fraser CM, Venter JC. Kirkness EF, et al. Science. 2003 Sep 26;301(5641):1898-903. doi: 10.1126/science.1086432. Science. 2003. PMID: 14512627
Deep sequencing of 10,000 human genomes.
Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC. Telenti A, et al. Among authors: kirkness ef. Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11901-11906. doi: 10.1073/pnas.1613365113. Epub 2016 Oct 4. Proc Natl Acad Sci U S A. 2016. PMID: 27702888 Free PMC article.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Long T, et al. Among authors: kirkness ef. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
The human noncoding genome defined by genetic diversity.
di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A. di Iulio J, et al. Among authors: kirkness ef. Nat Genet. 2018 Mar;50(3):333-337. doi: 10.1038/s41588-018-0062-7. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483654
125 results