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Items: 1 to 20 of 97

1.

Systematic analysis and functional annotation of variations in the genome of an Indian individual.

Patowary A, Purkanti R, Singh M, Chauhan RK, Bhartiya D, Dwivedi OP, Chauhan G, Bharadwaj D, Sivasubbu S, Scaria V.

Hum Mutat. 2012 Jul;33(7):1133-40. doi: 10.1002/humu.22091. Epub 2012 Apr 16.

PMID:
22461382
2.

Personalized medicine: a personal view.

Meyer UA.

Clin Pharmacol Ther. 2012 Mar;91(3):373-5. doi: 10.1038/clpt.2011.238.

PMID:
22343810
3.

SNPedia: a wiki supporting personal genome annotation, interpretation and analysis.

Cariaso M, Lennon G.

Nucleic Acids Res. 2012 Jan;40(Database issue):D1308-12. doi: 10.1093/nar/gkr798. Epub 2011 Dec 2.

4.

Variation in the mutation rate across mammalian genomes.

Hodgkinson A, Eyre-Walker A.

Nat Rev Genet. 2011 Oct 4;12(11):756-66. doi: 10.1038/nrg3098. Review.

PMID:
21969038
5.

An Aboriginal Australian genome reveals separate human dispersals into Asia.

Rasmussen M, Guo X, Wang Y, Lohmueller KE, Rasmussen S, Albrechtsen A, Skotte L, Lindgreen S, Metspalu M, Jombart T, Kivisild T, Zhai W, Eriksson A, Manica A, Orlando L, De La Vega FM, Tridico S, Metspalu E, Nielsen K, Ávila-Arcos MC, Moreno-Mayar JV, Muller C, Dortch J, Gilbert MT, Lund O, Wesolowska A, Karmin M, Weinert LA, Wang B, Li J, Tai S, Xiao F, Hanihara T, van Driem G, Jha AR, Ricaut FX, de Knijff P, Migliano AB, Gallego Romero I, Kristiansen K, Lambert DM, Brunak S, Forster P, Brinkmann B, Nehlich O, Bunce M, Richards M, Gupta R, Bustamante CD, Krogh A, Foley RA, Lahr MM, Balloux F, Sicheritz-Pontén T, Villems R, Nielsen R, Wang J, Willerslev E.

Science. 2011 Oct 7;334(6052):94-8. doi: 10.1126/science.1211177. Epub 2011 Sep 22.

6.

Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.

Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, Doi S, Fujita K, Miyatake A, Enomoto T, Miyagawa T, Adachi M, Tanaka H, Niimi A, Matsumoto H, Ito I, Masuko H, Sakamoto T, Hizawa N, Taniguchi M, Lima JJ, Irvin CG, Peters SP, Himes BE, Litonjua AA, Tantisira KG, Weiss ST, Kamatani N, Nakamura Y, Tamari M.

Nat Genet. 2011 Jul 31;43(9):893-6. doi: 10.1038/ng.887.

7.

An integrated semiconductor device enabling non-optical genome sequencing.

Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, Leamon JH, Johnson K, Milgrew MJ, Edwards M, Hoon J, Simons JF, Marran D, Myers JW, Davidson JF, Branting A, Nobile JR, Puc BP, Light D, Clark TA, Huber M, Branciforte JT, Stoner IB, Cawley SE, Lyons M, Fu Y, Homer N, Sedova M, Miao X, Reed B, Sabina J, Feierstein E, Schorn M, Alanjary M, Dimalanta E, Dressman D, Kasinskas R, Sokolsky T, Fidanza JA, Namsaraev E, McKernan KJ, Williams A, Roth GT, Bustillo J.

Nature. 2011 Jul 20;475(7356):348-52. doi: 10.1038/nature10242.

PMID:
21776081
8.

Personalized medicine: progress and promise.

Chan IS, Ginsburg GS.

Annu Rev Genomics Hum Genet. 2011;12:217-44. doi: 10.1146/annurev-genom-082410-101446. Review.

PMID:
21721939
9.

MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods.

Tamura K, Peterson D, Peterson N, Stecher G, Nei M, Kumar S.

Mol Biol Evol. 2011 Oct;28(10):2731-9. doi: 10.1093/molbev/msr121. Epub 2011 May 4.

10.

Whole-genome sequencing: a step closer to personalized medicine.

Pasche B, Absher D.

JAMA. 2011 Apr 20;305(15):1596-7. doi: 10.1001/jama.2011.484. No abstract available.

PMID:
21505140
11.

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.

JAMA. 2011 Apr 20;305(15):1577-84. doi: 10.1001/jama.2011.497.

12.

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.

JAMA. 2011 Apr 20;305(15):1568-76. doi: 10.1001/jama.2011.473.

13.

A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.

Cha PC, Takahashi A, Hosono N, Low SK, Kamatani N, Kubo M, Nakamura Y.

Nat Genet. 2011 May;43(5):447-50. doi: 10.1038/ng.805. Epub 2011 Apr 3.

PMID:
21460842
14.

Natural genetic variation caused by small insertions and deletions in the human genome.

Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE.

Genome Res. 2011 Jun;21(6):830-9. doi: 10.1101/gr.115907.110. Epub 2011 Apr 1.

15.

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group.; Wellcome Trust Case Control Consortium 2., Zhou K, Bellenguez C, Spencer CC, Bennett AJ, Coleman RL, Tavendale R, Hawley SA, Donnelly LA, Schofield C, Groves CJ, Burch L, Carr F, Strange A, Freeman C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A, Edkins S, Gray E, Hunt S, Jankowski J, Langford C, Markus HS, Mathew CG, Plomin R, Rautanen A, Sawcer SJ, Samani NJ, Trembath R, Viswanathan AC, Wood NW; MAGIC investigators., Harries LW, Hattersley AT, Doney AS, Colhoun H, Morris AD, Sutherland C, Hardie DG, Peltonen L, McCarthy MI, Holman RR, Palmer CN, Donnelly P, Pearson ER.

Nat Genet. 2011 Feb;43(2):117-20. doi: 10.1038/ng.735. Epub 2010 Dec 26.

16.

Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association.

Chen R, Davydov EV, Sirota M, Butte AJ.

PLoS One. 2010 Oct 22;5(10):e13574. doi: 10.1371/journal.pone.0013574.

18.

Overview of personalized medicine in the disease genomic era.

Hong KW, Oh B.

BMB Rep. 2010 Oct;43(10):643-8. doi: 10.5483/BMBRep.2010.43.10.643. Review.

19.

Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing.

Fujimoto A, Nakagawa H, Hosono N, Nakano K, Abe T, Boroevich KA, Nagasaki M, Yamaguchi R, Shibuya T, Kubo M, Miyano S, Nakamura Y, Tsunoda T.

Nat Genet. 2010 Nov;42(11):931-6. doi: 10.1038/ng.691. Epub 2010 Oct 24.

PMID:
20972442
20.

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.

Kloss-Brandstätter A, Pacher D, Schönherr S, Weissensteiner H, Binna R, Specht G, Kronenberg F.

Hum Mutat. 2011 Jan;32(1):25-32. doi: 10.1002/humu.21382. Epub 2010 Nov 16.

PMID:
20960467

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