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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. (julho de 1995). «Whole-genome random sequencing and assembly of Haemophilus influenzae Rd». Science. 269 (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 (dezembro de 2013). «Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs». Twin Res Hum Genet. 16 (6): 1026–32. PMID24182360. doi:10.1017/thg.2013.73
Hodgkinson, Alan; Chen, Ying; Eyre-Walker, Adam (janeiro de 2012). «The large-scale distribution of somatic mutations in cancer genomes». Human Mutation. 33 (1): 136–143. PMID21953857. doi:10.1002/humu.21616
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Supek, Fran; Lehner, Ben (julho de 2017). «Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes». Cell. 170 (3): 534–547.e23. PMID28753428. doi:10.1016/j.cell.2017.07.003. hdl:10230/35343
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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 Genetics. 7 (9): e1002280. PMC3174201. PMID21935354. doi:10.1371/journal.pgen.1002280
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«STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing data». Nature Methods. 19 (12): 1532–1533. Dezembro de 2022. PMID36316564. doi:10.1038/s41592-022-01641-w
Li, Xihao; Quick, Corbin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Selvaraj, Margaret Sunitha; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Bielak, Lawrence F.; Bis, Joshua C.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Brody, Jennifer A.; Cade, Brian E.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Göring, Harald H. H.; Guo, Xiuqing; Haessler, Jeffrey; Kalyani, Rita R.; Kooperberg, Charles; Kral, Brian G.; Lange, Leslie A.; Manichaikul, Ani; Martin, Lisa W.; McGarvey, Stephen T.; Mitchell, Braxton D.; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Peyser, Patricia A.; Psaty, Bruce M.; Raffield, Laura M.; Redline, Susan; Reiner, Alexander P.; Reupena, Muagututi’a Sefuiva; Rice, Kenneth M.; Rich, Stephen S.; Sitlani, Colleen M.; Smith, Jennifer A.; Taylor, Kent D.; Vasan, Ramachandran S.; Willer, Cristen J.; Wilson, James G.; Yanek, Lisa R.; Zhao, Wei; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter, Jerome I.; Natarajan, Pradeep; Peloso, Gina M.; Li, Zilin; Lin, Xihong (janeiro de 2023). «Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies». Nature Genetics. 55 (1): 154–164. PMC10084891. PMID36564505. doi:10.1038/s41588-022-01225-6
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Nelson RM; Botkjin JR; Kodish ED; et al. (junho de 2001). «Ethical issues with genetic testing in pediatrics». Pediatrics. 107 (6): 1451–5. PMID11389275. doi:10.1542/peds.107.6.1451
Borry P; Fryns JP; Schotsmans P; Dierickx K (fevereiro 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
Supek, Fran; Lehner, Ben (julho de 2017). «Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes». Cell. 170 (3): 534–547.e23. PMID28753428. doi:10.1016/j.cell.2017.07.003. hdl:10230/35343
Fiers, W.; Contreras, R.; Duerinck, F.; Haegeman, G.; Iserentant, D.; Merregaert, J.; Min Jou, W.; Molemans, F.; Raeymaekers, A.; Van den Berghe, A.; Volckaert, G.; Ysebaert, M. (8 de abril de 1976). «Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase gene». Nature. 260 (5551): 500–507. Bibcode:1976Natur.260..500F. PMID1264203. doi:10.1038/260500a0
Oliver, S. G.; van der Aart, Q. J. M.; Agostoni-Carbone, M. L.; et al. (maio de 1992). «The complete DNA sequence of yeast chromosome III». Nature. 357 (6373): 38–46. Bibcode:1992Natur.357...38O. PMID1574125. doi:10.1038/357038a0
Fleischmann, R.; Adams, M.; White, O; Clayton, R.; Kirkness, E.; Kerlavage, A.; Bult, C.; Tomb, J.; Dougherty, B.; Merrick, J.; al., e. (28 de julho de 1995). «Whole-genome random sequencing and assembly of Haemophilus influenzae Rd». Science. 269 (5223): 496–512. Bibcode:1995Sci...269..496F. PMID7542800. doi:10.1126/science.7542800
The Arabidopsis Genome Initiative (14 de dezembro de 2000). «Analysis of the genome sequence of the flowering plant Arabidopsis thaliana». Nature. 408 (6814): 796–815. Bibcode:2000Natur.408..796T. PMID11130711. doi:10.1038/35048692
Schuster-Böckler, Benjamin; Lehner, Ben (agosto de 2012). «Chromatin organization is a major influence on regional mutation rates in human cancer cells». Nature. 488 (7412): 504–507. Bibcode:2012Natur.488..504S. PMID22820252. doi:10.1038/nature11273
Fiers, W.; Contreras, R.; Duerinck, F.; Haegeman, G.; Iserentant, D.; Merregaert, J.; Min Jou, W.; Molemans, F.; Raeymaekers, A.; Van den Berghe, A.; Volckaert, G.; Ysebaert, M. (8 de abril de 1976). «Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase gene». Nature. 260 (5551): 500–507. Bibcode:1976Natur.260..500F. PMID1264203. doi:10.1038/260500a0
Oliver, S. G.; van der Aart, Q. J. M.; Agostoni-Carbone, M. L.; et al. (maio de 1992). «The complete DNA sequence of yeast chromosome III». Nature. 357 (6373): 38–46. Bibcode:1992Natur.357...38O. PMID1574125. doi:10.1038/357038a0
Fleischmann, R.; Adams, M.; White, O; Clayton, R.; Kirkness, E.; Kerlavage, A.; Bult, C.; Tomb, J.; Dougherty, B.; Merrick, J.; al., e. (28 de julho de 1995). «Whole-genome random sequencing and assembly of Haemophilus influenzae Rd». Science. 269 (5223): 496–512. Bibcode:1995Sci...269..496F. PMID7542800. doi:10.1126/science.7542800
The Arabidopsis Genome Initiative (14 de dezembro de 2000). «Analysis of the genome sequence of the flowering plant Arabidopsis thaliana». Nature. 408 (6814): 796–815. Bibcode:2000Natur.408..796T. PMID11130711. doi:10.1038/35048692
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 Medicine. 370 (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». Genomics. 6 (4): 593–608. PMID2341149. doi:10.1016/0888-7543(90)90493-E
Roach JC; Boysen C; Wang K; Hood L (março de 1995). «Pairwise end sequencing: a unified approach to genomic mapping and sequencing». Genomics. 26 (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. (julho de 1995). «Whole-genome random sequencing and assembly of Haemophilus influenzae Rd». Science. 269 (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 (dezembro de 2013). «Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs». Twin Res Hum Genet. 16 (6): 1026–32. PMID24182360. doi:10.1017/thg.2013.73
Hodgkinson, Alan; Chen, Ying; Eyre-Walker, Adam (janeiro de 2012). «The large-scale distribution of somatic mutations in cancer genomes». Human Mutation. 33 (1): 136–143. PMID21953857. doi:10.1002/humu.21616
Schuster-Böckler, Benjamin; Lehner, Ben (agosto de 2012). «Chromatin organization is a major influence on regional mutation rates in human cancer cells». Nature. 488 (7412): 504–507. Bibcode:2012Natur.488..504S. PMID22820252. doi:10.1038/nature11273
Supek, Fran; Lehner, Ben (julho de 2017). «Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes». Cell. 170 (3): 534–547.e23. PMID28753428. doi:10.1016/j.cell.2017.07.003. hdl:10230/35343
Yano, K; Yamamoto, E; Aya, K; Takeuchi, H; Lo, PC; Hu, L; Yamasaki, M; Yoshida, S; Kitano, H; Hirano, K; Matsuoka, M (agosto de 2016). «Genome-wide association study using whole-genome sequencing rapidly identifies new genes influencing agronomic traits in rice.». Nature Genetics. 48 (8): 927–34. PMID27322545. doi:10.1038/ng.3596
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 Genetics. 7 (9): e1002280. PMC3174201. PMID21935354. doi:10.1371/journal.pgen.1002280
«STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing data». Nature Methods. 19 (12): 1532–1533. Dezembro de 2022. PMID36316564. doi:10.1038/s41592-022-01641-w
Li, Xihao; Quick, Corbin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Selvaraj, Margaret Sunitha; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Bielak, Lawrence F.; Bis, Joshua C.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Brody, Jennifer A.; Cade, Brian E.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Göring, Harald H. H.; Guo, Xiuqing; Haessler, Jeffrey; Kalyani, Rita R.; Kooperberg, Charles; Kral, Brian G.; Lange, Leslie A.; Manichaikul, Ani; Martin, Lisa W.; McGarvey, Stephen T.; Mitchell, Braxton D.; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Peyser, Patricia A.; Psaty, Bruce M.; Raffield, Laura M.; Redline, Susan; Reiner, Alexander P.; Reupena, Muagututi’a Sefuiva; Rice, Kenneth M.; Rich, Stephen S.; Sitlani, Colleen M.; Smith, Jennifer A.; Taylor, Kent D.; Vasan, Ramachandran S.; Willer, Cristen J.; Wilson, James G.; Yanek, Lisa R.; Zhao, Wei; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter, Jerome I.; Natarajan, Pradeep; Peloso, Gina M.; Li, Zilin; Lin, Xihong (janeiro de 2023). «Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies». Nature Genetics. 55 (1): 154–164. PMC10084891. PMID36564505. doi:10.1038/s41588-022-01225-6
McCabe LL; McCabe ER (junho de 2001). «Postgenomic medicine. Presymptomatic testing for prediction and prevention». Clin Perinatol. 28 (2): 425–34. PMID11499063. doi:10.1016/S0095-5108(05)70094-4
Nelson RM; Botkjin JR; Kodish ED; et al. (junho de 2001). «Ethical issues with genetic testing in pediatrics». Pediatrics. 107 (6): 1451–5. PMID11389275. doi:10.1542/peds.107.6.1451
Borry P; Fryns JP; Schotsmans P; Dierickx K (fevereiro 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