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Results: 1 to 20 of 141

1.

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
2.

Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates.

Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A.

Pharmacogenet Genomics. 2012 Dec;22(12):846-57. doi: 10.1097/FPC.0b013e32835a3a6d.

PMID:
23089684
[PubMed - indexed for MEDLINE]
3.

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies.

Huyghe JR, Fransen E, Hannula S, Van Laer L, Van Eyken E, Mäki-Torkko E, Aikio P, Sorri M, Huentelman MJ, Van Camp G.

Eur J Hum Genet. 2011 Mar;19(3):347-52. doi: 10.1038/ejhg.2010.179. Epub 2010 Dec 8.

PMID:
21150888
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Human genome-wide screen of haplotype-like blocks of reduced diversity.

Costas J, Salas A, Phillips C, Carracedo A.

Gene. 2005 Apr 11;349:219-25.

PMID:
15780967
[PubMed - indexed for MEDLINE]
5.

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Shen H, Li J, Zhang J, Xu C, Jiang Y, Wu Z, Zhao F, Liao L, Chen J, Lin Y, Tian Q, Papasian CJ, Deng HW.

PLoS One. 2013;8(4):e59494. doi: 10.1371/journal.pone.0059494. Epub 2013 Apr 5.

PMID:
23577066
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Rare and common regulatory variation in population-scale sequenced human genomes.

Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET.

PLoS Genet. 2011 Jul;7(7):e1002144. doi: 10.1371/journal.pgen.1002144. Epub 2011 Jul 21.

PMID:
21811411
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Whole-genome patterns of common DNA variation in three human populations.

Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR.

Science. 2005 Feb 18;307(5712):1072-9.

PMID:
15718463
[PubMed - indexed for MEDLINE]
Free Article
8.

Comprehensive resequence analysis of a 123-kb region of chromosome 11q13 associated with prostate cancer.

Chung CC, Boland J, Yeager M, Jacobs KB, Zhang X, Deng Z, Matthews C, Berndt SI, Chanock SJ.

Prostate. 2012 Apr;72(5):476-86.

PMID:
22468268
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, Shen J, Tang Z, Bacanu SA, Fraser D, Warren L, Aponte J, Zawistowski M, Liu X, Zhang H, Zhang Y, Li J, Li Y, Li L, Woollard P, Topp S, Hall MD, Nangle K, Wang J, Abecasis G, Cardon LR, Zöllner S, Whittaker JC, Chissoe SL, Novembre J, Mooser V.

Science. 2012 Jul 6;337(6090):100-4. doi: 10.1126/science.1217876. Epub 2012 May 17.

PMID:
22604722
[PubMed - indexed for MEDLINE]
Free Article
10.

Complete genome sequencing and variant analysis of a Pakistani individual.

Azim MK, Yang C, Yan Z, Choudhary MI, Khan A, Sun X, Li R, Asif H, Sharif S, Zhang Y.

J Hum Genet. 2013 Sep;58(9):622-6. doi: 10.1038/jhg.2013.72. Epub 2013 Jul 11.

PMID:
23842039
[PubMed - indexed for MEDLINE]
11.

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
12.

Sequencing and analysis of a South Asian-Indian personal genome.

Gupta R, Ratan A, Rajesh C, Chen R, Kim HL, Burhans R, Miller W, Santhosh S, Davuluri RV, Butte AJ, Schuster SC, Seshagiri S, Thomas G.

BMC Genomics. 2012 Aug 31;13:440. doi: 10.1186/1471-2164-13-440.

PMID:
22938532
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

How well do HapMap SNPs capture the untyped SNPs?

Tantoso E, Yang Y, Li KB.

BMC Genomics. 2006 Sep 19;7:238.

PMID:
16982009
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetics. Harvesting medical information from the human family tree.

Altshuler D, Clark AG.

Science. 2005 Feb 18;307(5712):1052-3. No abstract available.

PMID:
15718454
[PubMed - indexed for MEDLINE]
16.

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 Biol. 2007 Sep 4;5(10):e254.

PMID:
17803354
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Geography and genography: prediction of continental origin using randomly selected single nucleotide polymorphisms.

Allocco DJ, Song Q, Gibbons GH, Ramoni MF, Kohane IS.

BMC Genomics. 2007 Mar 10;8:68.

PMID:
17349058
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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]
19.

Recent explosive human population growth has resulted in an excess of rare genetic variants.

Keinan A, Clark AG.

Science. 2012 May 11;336(6082):740-3. doi: 10.1126/science.1217283.

PMID:
22582263
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG.

Hum Mol Genet. 2010 May 1;19(9):1828-39. doi: 10.1093/hmg/ddq041. Epub 2010 Jan 27.

PMID:
20106866
[PubMed - indexed for MEDLINE]
Free PMC Article

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