◆ 개인유전체 염기서열 정보 해독

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
PLoS Biol5(10) pe254 (2007 Sep 4) 10.1371/journal.pbio.0050254

The complete genome of an individual by massively parallel DNA sequencing.
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
Nature452(7189) p872-6 (2008 Apr 17) 10.1038/nature06884

Accurate whole human genome sequencing using reversible terminator chemistry.
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara E Catenazzi M, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johnson MQ, James T, Huw Jones TA, Kang GD, Kerelska TH, Kersey AD, Khrebtukova I, Kindwall AP, Kingsbury Z, Kokko-Gonzales PI, Kumar A, Laurent MA, Lawley CT, Lee SE, Lee X, Liao AK, Loch JA, Lok M, Luo S, Mammen RM, Martin JW, McCauley PG, McNitt P, Mehta P, Moon KW, Mullens JW, Newington T, Ning Z, Ling Ng B, Novo SM, O'Neill MJ, Osborne MA, Osnowski A, Ostadan O, Paraschos LL, Pickering L, Pike AC, Pike AC, Chris Pinkard D, Pliskin DP, Podhasky J, Quijano VJ, Raczy C, Rae VH, Rawlings SR, Chiva Rodriguez A, Roe PM, Rogers J, Rogert Bacigalupo MC, Romanov N, Romieu A, Roth RK, Rourke NJ, Ruediger ST, Rusman E, Sanches-Kuiper RM, Schenker MR, Seoane JM, Shaw RJ, Shiver MK, Short SW, Sizto NL, Sluis JP, Smith MA, Ernest Sohna Sohna J, Spence EJ, Stevens K, Sutton N, Szajkowski L, Tregidgo CL, Turcatti G, Vandevondele S, Verhovsky Y, Virk SM, Wakelin S, Walcott GC, Wang J, Worsley GJ, Yan J, Yau L, Zuerlein M, Rogers J, Mullikin JC, Hurles ME, McCooke NJ, West JS, Oaks FL, Lundberg PL, Klenerman D, Durbin R, Smith AJ
Nature456(7218) p53-9 (2008 Nov 6) 10.1038/nature07517

The diploid genome sequence of an Asian individual.
Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Zhang J, Guo Y, Feng B, Li H, Lu Y, Fang X, Liang H, Du Z, Li D, Zhao Y, Hu Y, Yang Z, Zheng H, Hellmann I, Inouye M, Pool J, Yi X, Zhao J, Duan J, Zhou Y, Qin J, Ma L, Li G, Yang Z, Zhang G, Yang B, Yu C, Liang F, Li W, Li S, Li D, Ni P, Ruan J, Li Q, Zhu H, Liu D, Lu Z, Li N, Guo G, Zhang J, Ye J, Fang L, Hao Q, Chen Q, Liang Y, Su Y, San A, Ping C, Yang S, Chen F, Li L, Zhou K, Zheng H, Ren Y, Yang L, Gao Y, Yang G, Li Z, Feng X, Kristiansen K, Wong GK, Nielsen R, Durbin R, Bolund L, Zhang X, Li S, Yang H, Wang J
Nature456(7218) p60-5 (2008 Nov 6) 10.1038/nature07484

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.
Ahn SM, Kim TH, Lee S, Kim D, Ghang H, Kim DS, Kim BC, Kim SY, Kim WY, Kim C, Park D, Lee YS, Kim S, Reja R, Jho S, Kim CG, Cha JY, Kim KH, Lee B, Bhak J, Kim SJ
Genome Res19(9) p1622-9 (2009 Sep) 10.1101/gr.092197.109

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.
McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, Zhang L, Sheridan A, Fu H, Hendrickson CL, Li B, Kotler L, Stuart JR, Malek JA, Manning JM, Antipova AA, Perez DS, Moore MP, Hayashibara KC, Lyons MR, Beaudoin RE, Coleman BE, Laptewicz MW, Sannicandro AE, Rhodes MD, Gottimukkala RK, Yang S, Bafna V, Bashir A, MacBride A, Alkan C, Kidd JM, Eichler EE, Reese MG, De La Vega FM, Blanchard AP
Genome Res19(9) p1527-41 (2009 Sep) 10.1101/gr.091868.109

Single-molecule sequencing of an individual human genome.
Pushkarev D, Neff NF, Quake SR
Nat Biotechnol27(9) p847-50 (2009 Sep) 10.1038/nbt.1561

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA
Science327(5961) p78-81 (2010 Jan 1) 10.1126/science.1181498

Clinical assessment incorporating a personal genome.
Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB
Lancet375(9725) p1525-35 (2010 May 1) 10.1016/S0140-6736(10)60452-7

Detail


Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, Schuettpelz LG, Shen D, Wang J, Walter MJ, Kulkarni S, Payton JE, Ivanovich J, Goodfellow PJ, Le Beau M, Koboldt DC, Dooling DJ, Fulton RS, Bender RH, Fulton LL, Delehaunty KD, Fronick CC, Appelbaum EL, Schmidt H, Abbott R, O'Laughlin M, Chen K, McLellan MD, Varghese N, Nagarajan R, Heath S, Graubert TA, Ding L, Ley TJ, Zambetti GP, Wilson RK, Mardis ER
JAMA305(15) p1568-76 (2011 Apr 20) 10.1001/jama.2011.473

Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, Wallis J, Chen K, Payton JE, Fulton RS, Veizer J, Schmidt H, Vickery TL, Heath S, Watson MA, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Ley TJ, Wilson RK
JAMA305(15) p1577-84 (2011 Apr 20) 10.1001/jama.2011.497



◆ NGS 리뷰
Application of 'next-generation' sequencing technologies to microbial genetics.
MacLean D, Jones JD, Studholme DJ
Nat Rev Microbiol7(4) p287-96 (2009 Apr) 10.1038/nrmicro2122

Detail

Computation for ChIP-seq and RNA-seq studies.
Pepke S, Wold B, Mortazavi A
Nat Methods6(11 Suppl) pS22-32 (2009 Nov) 10.1038/nmeth.1371

Meet Me Halfway: When Genomics Meets Structural Bioinformatics.
Gong S, Worth CL, Cheng TM, Blundell TL
J Cardiovasc Transl Res() p (2011 Feb 25) 10.1007/s12265-011-9259-1

The impact of next-generation sequencing on genomics.
Zhang J, Chiodini R, Badr A, Zhang G
J Genet Genomics38(3) p95-109 (2011 Mar 20) 10.1016/j.jgg.2011.02.003

Evaluation of next-generation sequencing software in mapping and assembly.
Bao S, Jiang R, Kwan W, Wang B, Ma X, Song YQ
J Hum Genet() p (2011 Apr 28) 10.1038/jhg.2011.43



◆ Personal Genome Sequencing 리뷰, Challenges




Personal genomes: no bad news?
Chadwick R
Bioethics25(2) p62-5 (2011 Feb) 10.1111/j.1467-8519.2010.01879.x

Revealing the human mutome.
Chen JM, Férec C, Cooper DN
Clin Genet78(4) p310-20 (2010 Oct) 10.1111/j.1399-0004.2010.01474.x

Challenges of sequencing human genomes.
Koboldt DC, Ding L, Mardis ER, Wilson RK
Brief Bioinform11(5) p484-98 (2010 Sep) 10.1093/bib/bbq016

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD
Hum Mutat31(6) p631-55 (2010 Jun) 10.1002/humu.21260

Personal genome sequencing: current approaches and challenges.
Snyder M, Du J, Gerstein M
Genes Dev24(5) p423-31 (2010 Mar 1) 10.1101/gad.1864110



◆ 유전체 염기서열 분석 기술 플랫폼
Sequencing technologies - the next generation.
Metzker ML
Nat Rev Genet11(1) p31-46 (2010 Jan) 10.1038/nrg2626



◆ 유전체 염기서열 분석 서비스, Consumer Gene Testing
Effect of direct-to-consumer genomewide profiling to assess disease risk.
Bloss CS, Schork NJ, Topol EJ
N Engl J Med364(6) p524-34 (2011 Feb 10) 10.1056/NEJMoa1011893

Web-based, participant-driven studies yield novel genetic associations for common traits.
Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J
PLoS Genet6(6) pe1000993 (2010 Jun 24) 10.1371/journal.pgen.1000993

An agenda for personalized medicine.
Ng PC, Murray SS, Levy S, Venter JC
Nature461(7265) p724-6 (2009 Oct 8) 10.1038/461724a

Evaluating the utility of personal genomic information.
Foster MW, Mulvihill JJ, Sharp RR
Genet Med11(8) p570-4 (2009 Aug) 10.1097/GIM.0b013e3181a2743e



◆ NGS 기술 응용 연구
A decade's perspective on DNA sequencing technology.
Mardis ER
Nature470(7333) p198-203 (2011 Feb 10) 10.1038/nature09796



◆ 기타 유전체 정보와 관련된 리뷰
Computational methods for discovering structural variation with next-generation sequencing.
Medvedev P, Stanciu M, Brudno M
Nat Methods6(11 Suppl) pS13-20 (2009 Nov) 10.1038/nmeth.1374

RNA-seq: from technology to biology.
Marguerat S, Bähler J
Cell Mol Life Sci67(4) p569-79 (2010 Feb) 10.1007/s00018-009-0180-6

Whole genome transcriptome analysis.
Forrest AR, Carninci P
RNA Biol6(2) p107-12 (2009 Apr-Jun)