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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 (setembro de 2007). "The diploid genome sequence of an individual human". PLOS Biol.5 (10): e254. PMC1964779. PMID17803354. doi:10.1371/journal.pbio.0050254.
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Goffeau, A.; Barrell, B. G.; Bussey, H.; Davis, R. W.; Dujon, B.; Feldmann, H.; Galibert, F.; Hoheisel, J. D.; Jacq, C.; Johnston, M.; Louis, E. J.; Mewes, H. W.; Murakami, Y.; Philippsen, P.; Tettelin, H.; Oliver, S. G. (25 de outubro de 1996). "Life with 6000 Genes"(PDF). Science274 (5287): 546–567. Bibcode:1996Sci...274..546G. PMID8849441. doi:10.1126/science.274.5287.546. Arquivado dende o orixinal o 7 de marzo de 2016.
Goffeau, A.; Barrell, B. G.; Bussey, H.; Davis, R. W.; Dujon, B.; Feldmann, H.; Galibert, F.; Hoheisel, J. D.; Jacq, C.; Johnston, M.; Louis, E. J.; Mewes, H. W.; Murakami, Y.; Philippsen, P.; Tettelin, H.; Oliver, S. G. (25 de outubro de 1996). "Life with 6000 Genes"(PDF). Science274 (5287): 546–567. Bibcode:1996Sci...274..546G. PMID8849441. doi:10.1126/science.274.5287.546. Arquivado dende o orixinal o 7 de marzo de 2016.
Yurkiewicz, I. R.; Korf, B. R.; Lehmann, L. S. (2014). "Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?". New England Journal of Medicine370 (3): 195–7. PMID24428465. doi:10.1056/NEJMp1215536.
Edwards A; Voss H; Rice P; Civitello A; Stegemann J; Schwager C; Zimmermann J; Erfle H; Caskey CT; Ansorge W (abril de 1990). "Automated DNA sequencing of the human HPRT locus". Genomics6 (4): 593–608. PMID2341149. doi:10.1016/0888-7543(90)90493-E.
Roach JC; Boysen C; Wang K; Hood L (marzo de 1995). "Pairwise end sequencing: a unified approach to genomic mapping and sequencing". Genomics26 (2): 345–53. PMID7601461. doi:10.1016/0888-7543(95)80219-C.
Fleischmann RD; Adams MD; White O; Clayton RA; Kirkness EF; Kerlavage AR; Bult CJ; Tomb JF; Dougherty BA; Merrick JM; McKenney; Sutton; Fitzhugh; Fields; Gocyne; Scott; Shirley; Liu; Glodek; Kelley; Weidman; Phillips; Spriggs; Hedblom; Cotton; Utterback; Hanna; Nguyen; Saudek; et al. (xullo de 1995). "Whole-genome random sequencing and assembly of Haemophilus influenzae Rd". Science269 (5223): 496–512. Bibcode:1995Sci...269..496F. PMID7542800. doi:10.1126/science.7542800.
Ye K; Beekman M; Lameijer EW; Zhang Y; Moed MH; van den Akker EB; Deelen J; Houwing-Duistermaat JJ; Kremer D; Anvar SY; Laros JF; Jones D; Raine K; Blackburne B; Potluri S; Long Q; Guryev V; van der Breggen R; Westendorp RG; 't Hoen PA; den Dunnen J; van Ommen GJ; Willemsen G; Pitts SJ; Cox DR; Ning Z; Boomsma DI; Slagboom PE (decembro de 2013). "Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs". Twin Res Hum Genet16 (6): 1026–32. PMID24182360. doi:10.1017/thg.2013.73.
Hodgkinson, Alan; Chen, Ying; Eyre-Walker, Adam (xaneiro de 2012). "The large-scale distribution of somatic mutations in cancer genomes". Human Mutation33 (1): 136–143. ISSN1098-1004. PMID21953857. doi:10.1002/humu.21616.
Dewey, Frederick E.; Chen, Rong; Cordero, Sergio P.; Ormond, Kelly E.; Caleshu, Colleen; Karczewski, Konrad J.; Whirl-Carrillo, Michelle; Wheeler, Matthew T.; Dudley, Joel T.; Byrnes, Jake K.; Cornejo, Omar E.; Knowles, Joshua W.; Woon, Mark; Sangkuhl, Katrin; Gong, Li; Thorn, Caroline F.; Hebert, Joan M.; Capriotti, Emidio; David, Sean P.; Pavlovic, Aleksandra; West, Anne; Thakuria, Joseph V.; Ball, Madeleine P.; Zaranek, Alexander W.; Rehm, Heidi L.; Church, George M.; West, John S.; Bustamante, Carlos D.; Snyder, Michael; Altman, Russ B.; Klein, Teri E.; Butte, Atul J.; Ashley, Euan A. (15 de setembro de 2011). "Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence". PLOS Genetics7 (9): e1002280. PMC3174201. PMID21935354. doi:10.1371/journal.pgen.1002280.
Borry P; Fryns JP; Schotsmans P; Dierickx K (febreiro de 2006). "Carrier testing in minors: a systematic review of guidelines and position papers". Eur. J. Hum. Genet.14 (2): 133–8. PMID16267502. doi:10.1038/sj.ejhg.5201509.
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 (setembro de 2007). "The diploid genome sequence of an individual human". PLOS Biol.5 (10): e254. PMC1964779. PMID17803354. doi:10.1371/journal.pbio.0050254.
Wheeler DA; Srinivasan M; Egholm M; Shen Y; Chen L; McGuire A; He W; Chen YJ; Makhijani V; Roth GT; Gomes X; Tartaro K; Niazi F; Turcotte CL; Irzyk GP; Lupski JR; Chinault C; Song XZ; Liu Y; Yuan Y; Nazareth L; Qin X; Muzny DM; Margulies M; Weinstock GM; Gibbs RA; Rothberg JM (2008). "The complete genome of an individual by massively parallel DNA sequencing". Nature452 (7189): 872–6. Bibcode:2008Natur.452..872W. PMID18421352. doi:10.1038/nature06884.
Goffeau, A.; Barrell, B. G.; Bussey, H.; Davis, R. W.; Dujon, B.; Feldmann, H.; Galibert, F.; Hoheisel, J. D.; Jacq, C.; Johnston, M.; Louis, E. J.; Mewes, H. W.; Murakami, Y.; Philippsen, P.; Tettelin, H.; Oliver, S. G. (25 de outubro de 1996). "Life with 6000 Genes"(PDF). Science274 (5287): 546–567. Bibcode:1996Sci...274..546G. PMID8849441. doi:10.1126/science.274.5287.546. Arquivado dende o orixinal o 7 de marzo de 2016.
Goffeau, A.; Barrell, B. G.; Bussey, H.; Davis, R. W.; Dujon, B.; Feldmann, H.; Galibert, F.; Hoheisel, J. D.; Jacq, C.; Johnston, M.; Louis, E. J.; Mewes, H. W.; Murakami, Y.; Philippsen, P.; Tettelin, H.; Oliver, S. G. (25 de outubro de 1996). "Life with 6000 Genes"(PDF). Science274 (5287): 546–567. Bibcode:1996Sci...274..546G. PMID8849441. doi:10.1126/science.274.5287.546. Arquivado dende o orixinal o 7 de marzo de 2016.
Hodgkinson, Alan; Chen, Ying; Eyre-Walker, Adam (xaneiro de 2012). "The large-scale distribution of somatic mutations in cancer genomes". Human Mutation33 (1): 136–143. ISSN1098-1004. PMID21953857. doi:10.1002/humu.21616.