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Accurate whole human genome sequencing using reversible terminator chemistry.
Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517.
Nature. 2008.
PMID: 18987734
Free PMC article.
A comprehensive catalogue of somatic mutations from a human cancer genome.
Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, Varela I, Lin ML, Ordóñez GR, Bignell GR, Ye K, Alipaz J, Bauer MJ, Beare D, Butler A, Carter RJ, Chen L, Cox AJ, Edkins S, Kokko-Gonzales PI, Gormley NA, Grocock RJ, Haudenschild CD, Hims MM, James T, Jia M, Kingsbury Z, Leroy C, Marshall J, Menzies A, Mudie LJ, Ning Z, Royce T, Schulz-Trieglaff OB, Spiridou A, Stebbings LA, Szajkowski L, Teague J, Williamson D, Chin L, Ross MT, Campbell PJ, Bentley DR, Futreal PA, Stratton MR.
Pleasance ED, et al. Among authors: kokko gonzales pi.
Nature. 2010 Jan 14;463(7278):191-6. doi: 10.1038/nature08658. Epub 2009 Dec 16.
Nature. 2010.
PMID: 20016485
Free PMC article.
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A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.
1000 Genomes Project Consortium, et al.
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.
Nature. 2010.
PMID: 20981092
Free PMC article.
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The 1000 Genomes Project: data management and community access.
Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P; 1000 Genomes Project Consortium.
Clarke L, et al.
Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974.
Nat Methods. 2012.
PMID: 22543379
Free PMC article.
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Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.
Niemann S, Köser CU, Gagneux S, Plinke C, Homolka S, Bignell H, Carter RJ, Cheetham RK, Cox A, Gormley NA, Kokko-Gonzales P, Murray LJ, Rigatti R, Smith VP, Arends FP, Cox HS, Smith G, Archer JA.
Niemann S, et al.
PLoS One. 2009 Oct 12;4(10):e7407. doi: 10.1371/journal.pone.0007407.
PLoS One. 2009.
PMID: 19823582
Free PMC article.
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Variation in genome-wide mutation rates within and between human families.
Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project.
Conrad DF, et al.
Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.
Nat Genet. 2011.
PMID: 21666693
Free PMC article.
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Methodology for Whole-Genome Sequencing of Methicillin-Resistant Staphylococcus aureus Isolates in a Routine Hospital Microbiology Laboratory.
Raven KE, Blane B, Leek D, Churcher C, Kokko-Gonzales P, Pugazhendhi D, Fraser L, Betley J, Parkhill J, Peacock SJ.
Raven KE, et al.
J Clin Microbiol. 2019 May 24;57(6):e00180-19. doi: 10.1128/JCM.00180-19. Print 2019 Jun.
J Clin Microbiol. 2019.
PMID: 30894439
Free PMC article.
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The functional spectrum of low-frequency coding variation.
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.
Marth GT, et al.
Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.
Genome Biol. 2011.
PMID: 21917140
Free PMC article.
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