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Results: 1 to 20 of 49

1.

The first Irish genome and ways of improving sequence accuracy.

Ju YS, Yoo YJ, Kim JI, Seo JS.

Genome Biol. 2010;11(9):132. doi: 10.1186/gb-2010-11-9-132. Epub 2010 Sep 7.

PMID:
20815917
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Sequencing and analysis of an Irish human genome.

Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, Friel N, Bradley DG, Hardiman O, Evans A, Wilson JF, Loftus B.

Genome Biol. 2010;11(9):R91. doi: 10.1186/gb-2010-11-9-r91. Epub 2010 Sep 7.

PMID:
20822512
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Characterizing and interpreting genetic variation from personal genome sequencing.

Johansson AC, Feuk L.

Methods Mol Biol. 2012;838:343-67. doi: 10.1007/978-1-61779-507-7_17.

PMID:
22228021
[PubMed - indexed for MEDLINE]
4.

Next-generation sequencing methods: impact of sequencing accuracy on SNP discovery.

Chan EY.

Methods Mol Biol. 2009;578:95-111. doi: 10.1007/978-1-60327-411-1_5.

PMID:
19768588
[PubMed - indexed for MEDLINE]
5.

Whole human exome capture for high-throughput sequencing.

Kim DW, Nam SH, Kim RN, Choi SH, Park HS.

Genome. 2010 Jul;53(7):568-74. doi: 10.1139/g10-025.

PMID:
20616878
[PubMed - indexed for MEDLINE]
6.

Bioinformatics approaches for genomics and post genomics applications of next-generation sequencing.

Horner DS, Pavesi G, Castrignanò T, De Meo PD, Liuni S, Sammeth M, Picardi E, Pesole G.

Brief Bioinform. 2010 Mar;11(2):181-97. doi: 10.1093/bib/bbp046. Epub 2009 Oct 27. Review.

PMID:
19864250
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

PMID:
20482838
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Whole genome sequencing.

Ng PC, Kirkness EF.

Methods Mol Biol. 2010;628:215-26. doi: 10.1007/978-1-60327-367-1_12. Review.

PMID:
20238084
[PubMed - indexed for MEDLINE]
9.

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.

Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884.

PMID:
18421352
[PubMed - indexed for MEDLINE]
10.

Identification and mapping of paralogous genes on a known genomic DNA sequence.

Bina M.

Methods Mol Biol. 2006;338:21-9.

PMID:
16888348
[PubMed - indexed for MEDLINE]
11.

Using reads to annotate the genome: influence of length, background distribution, and sequence errors on prediction capacity.

Philippe N, Boureux A, Bréhélin L, Tarhio J, Commes T, Rivals E.

Nucleic Acids Res. 2009 Aug;37(15):e104. doi: 10.1093/nar/gkp492. Epub 2009 Jun 16.

PMID:
19531739
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

Science. 2003 Sep 26;301(5641):1898-903.

PMID:
14512627
[PubMed - indexed for MEDLINE]
Free Article
13.

A statistical method for the detection of variants from next-generation resequencing of DNA pools.

Bansal V.

Bioinformatics. 2010 Jun 15;26(12):i318-24. doi: 10.1093/bioinformatics/btq214.

PMID:
20529923
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Whole-genome sequencing and variant discovery in C. elegans.

Hillier LW, Marth GT, Quinlan AR, Dooling D, Fewell G, Barnett D, Fox P, Glasscock JI, Hickenbotham M, Huang W, Magrini VJ, Richt RJ, Sander SN, Stewart DA, Stromberg M, Tsung EF, Wylie T, Schedl T, Wilson RK, Mardis ER.

Nat Methods. 2008 Feb;5(2):183-8. doi: 10.1038/nmeth.1179. Epub 2008 Jan 20.

PMID:
18204455
[PubMed - indexed for MEDLINE]
15.

Mapping short DNA sequencing reads and calling variants using mapping quality scores.

Li H, Ruan J, Durbin R.

Genome Res. 2008 Nov;18(11):1851-8. doi: 10.1101/gr.078212.108. Epub 2008 Aug 19.

PMID:
18714091
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The sequence of the human genome.

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X.

Science. 2001 Feb 16;291(5507):1304-51. Erratum in: Science 2001 Jun 5;292(5523):1838.

PMID:
11181995
[PubMed - indexed for MEDLINE]
17.

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.

Science. 2010 Jan 1;327(5961):78-81. doi: 10.1126/science.1181498. Epub 2009 Nov 5.

PMID:
19892942
[PubMed - indexed for MEDLINE]
Free Article
18.

Copy number variation and human genome maps.

McCarroll SA.

Nat Genet. 2010 May;42(5):365-6. doi: 10.1038/ng0510-365.

PMID:
20428091
[PubMed - indexed for MEDLINE]
19.

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence.

Rannala B, Reeve JP.

Am J Hum Genet. 2001 Jul;69(1):159-78. Epub 2001 Jun 15.

PMID:
11410841
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.

Li Y, Zheng H, Luo R, Wu H, Zhu H, Li R, Cao H, Wu B, Huang S, Shao H, Ma H, Zhang F, Feng S, Zhang W, Du H, Tian G, Li J, Zhang X, Li S, Bolund L, Kristiansen K, de Smith AJ, Blakemore AI, Coin LJ, Yang H, Wang J, Wang J.

Nat Biotechnol. 2011 Jul 24;29(8):723-30. doi: 10.1038/nbt.1904.

PMID:
21785424
[PubMed - indexed for MEDLINE]

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