Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 62

1.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA.

N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.

PMID:
20220177
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Goode DL, Cooper GM, Schmutz J, Dickson M, Gonzales E, Tsai M, Karra K, Davydov E, Batzoglou S, Myers RM, Sidow A.

Genome Res. 2010 Mar;20(3):301-10. doi: 10.1101/gr.102210.109. Epub 2010 Jan 12.

PMID:
20067941
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Human genetic variation recognizes functional elements in noncoding sequence.

Lomelin D, Jorgenson E, Risch N.

Genome Res. 2010 Mar;20(3):311-9. doi: 10.1101/gr.094151.109. Epub 2009 Dec 23.

PMID:
20032171
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA.

Davidson S, Starkey A, MacKenzie A.

BMC Genomics. 2009 Dec 16;10:614. doi: 10.1186/1471-2164-10-614.

PMID:
20015390
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genetic mapping in human disease.

Altshuler D, Daly MJ, Lander ES.

Science. 2008 Nov 7;322(5903):881-8. doi: 10.1126/science.1156409. Review.

PMID:
18988837
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK.

Nature. 2008 Nov 6;456(7218):66-72. doi: 10.1038/nature07485.

PMID:
18987736
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Autoimmune diseases: insights from genome-wide association studies.

Lettre G, Rioux JD.

Hum Mol Genet. 2008 Oct 15;17(R2):R116-21. doi: 10.1093/hmg/ddn246. Review.

PMID:
18852199
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genome-wide association studies in cancer.

Easton DF, Eeles RA.

Hum Mol Genet. 2008 Oct 15;17(R2):R109-15. doi: 10.1093/hmg/ddn287.

PMID:
18852198
[PubMed - indexed for MEDLINE]
Free Article
9.

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Mohlke KL, Boehnke M, Abecasis GR.

Hum Mol Genet. 2008 Oct 15;17(R2):R102-8. doi: 10.1093/hmg/ddn275.

PMID:
18852197
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs.

Paten B, Herrero J, Beal K, Fitzgerald S, Birney E.

Genome Res. 2008 Nov;18(11):1814-28. doi: 10.1101/gr.076554.108. Epub 2008 Oct 10.

PMID:
18849524
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Next-generation DNA sequencing.

Shendure J, Ji H.

Nat Biotechnol. 2008 Oct;26(10):1135-45. doi: 10.1038/nbt1486.

PMID:
18846087
[PubMed - indexed for MEDLINE]
12.

What would you do if you could sequence everything?

Kahvejian A, Quackenbush J, Thompson JF.

Nat Biotechnol. 2008 Oct;26(10):1125-33. doi: 10.1038/nbt1494.

PMID:
18846086
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genome-wide analysis of natural selection on human cis-elements.

Sethupathy P, Giang H, Plotkin JB, Hannenhalli S.

PLoS One. 2008 Sep 10;3(9):e3137. doi: 10.1371/journal.pone.0003137.

PMID:
18781197
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Multiple loci with different cancer specificities within the 8q24 gene desert.

Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus SJ, Kjaer SK, Hogdall E, DiCioccio RA, Whittemore AS, Gayther SA, Giles GG, Guy M, Edwards SM, Morrison J, Donovan JL, Hamdy FC, Dearnaley DP, Ardern-Jones AT, Hall AL, O'Brien LT, Gehr-Swain BN, Wilkinson RA, Brown PM, Hopper JL, Neal DE, Pharoah PD, Ponder BA, Eeles RA, Easton DF, Dunning AM; UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK ProtecT Study Collaborators.

J Natl Cancer Inst. 2008 Jul 2;100(13):962-6. doi: 10.1093/jnci/djn190. Epub 2008 Jun 24.

PMID:
18577746
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Combinatorial patterns of histone acetylations and methylations in the human genome.

Wang Z, Zang C, Rosenfeld JA, Schones DE, Barski A, Cuddapah S, Cui K, Roh TY, Peng W, Zhang MQ, Zhao K.

Nat Genet. 2008 Jul;40(7):897-903. doi: 10.1038/ng.154. Epub 2008 Jun 15.

PMID:
18552846
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG; CORGI Consortium, Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS.

Nat Genet. 2008 May;40(5):623-30. doi: 10.1038/ng.111. Epub 2008 Mar 30.

PMID:
18372905
[PubMed - indexed for MEDLINE]
17.

High-resolution mapping and characterization of open chromatin across the genome.

Boyle AP, Davis S, Shulha HP, Meltzer P, Margulies EH, Weng Z, Furey TS, Crawford GE.

Cell. 2008 Jan 25;132(2):311-22. doi: 10.1016/j.cell.2007.12.014.

PMID:
18243105
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The microRNA.org resource: targets and expression.

Betel D, Wilson M, Gabow A, Marks DS, Sander C.

Nucleic Acids Res. 2008 Jan;36(Database issue):D149-53. Epub 2007 Dec 23.

PMID:
18158296
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Human genome ultraconserved elements are ultraselected.

Katzman S, Kern AD, Bejerano G, Fewell G, Fulton L, Wilson RK, Salama SR, Haussler D.

Science. 2007 Aug 17;317(5840):915.

PMID:
17702936
[PubMed - indexed for MEDLINE]
Free Article
20.

Enriching the analysis of genomewide association studies with hierarchical modeling.

Chen GK, Witte JS.

Am J Hum Genet. 2007 Aug;81(2):397-404. Epub 2007 Jun 26.

PMID:
17668389
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk