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Results: 1 to 20 of 118

1.

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.

PMID:
23128226
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
3.

Singapore Genome Variation Project: a haplotype map of three Southeast Asian populations.

Teo YY, Sim X, Ong RT, Tan AK, Chen J, Tantoso E, Small KS, Ku CS, Lee EJ, Seielstad M, Chia KS.

Genome Res. 2009 Nov;19(11):2154-62. doi: 10.1101/gr.095000.109. Epub 2009 Aug 21.

PMID:
19700652
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.

Mu XJ, Lu ZJ, Kong Y, Lam HY, Gerstein MB.

Nucleic Acids Res. 2011 Sep 1;39(16):7058-76. doi: 10.1093/nar/gkr342. Epub 2011 May 19.

PMID:
21596777
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mapping and sequencing of structural variation from eight human genomes.

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

PMID:
18451855
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

The International HapMap Project.

International HapMap Consortium.

Nature. 2003 Dec 18;426(6968):789-96.

PMID:
14685227
[PubMed - indexed for MEDLINE]
8.

Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data.

Moore CB, Wallace JR, Wolfe DJ, Frase AT, Pendergrass SA, Weiss KM, Ritchie MD.

PLoS Genet. 2013;9(12):e1003959. doi: 10.1371/journal.pgen.1003959. Epub 2013 Dec 26.

PMID:
24385916
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Small insertions and deletions (INDELs) in human genomes.

Mullaney JM, Mills RE, Pittard WS, Devine SE.

Hum Mol Genet. 2010 Oct 15;19(R2):R131-6. doi: 10.1093/hmg/ddq400. Epub 2010 Sep 21. Review.

PMID:
20858594
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

CYP3A variation and the evolution of salt-sensitivity variants.

Thompson EE, Kuttab-Boulos H, Witonsky D, Yang L, Roe BA, Di Rienzo A.

Am J Hum Genet. 2004 Dec;75(6):1059-69. Epub 2004 Oct 18.

PMID:
15492926
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.

Kidd JM, Gravel S, Byrnes J, Moreno-Estrada A, Musharoff S, Bryc K, Degenhardt JD, Brisbin A, Sheth V, Chen R, McLaughlin SF, Peckham HE, Omberg L, Bormann Chung CA, Stanley S, Pearlstein K, Levandowsky E, Acevedo-Acevedo S, Auton A, Keinan A, Acuña-Alonzo V, Barquera-Lozano R, Canizales-Quinteros S, Eng C, Burchard EG, Russell A, Reynolds A, Clark AG, Reese MG, Lincoln SE, Butte AJ, De La Vega FM, Bustamante CD.

Am J Hum Genet. 2012 Oct 5;91(4):660-71. doi: 10.1016/j.ajhg.2012.08.025.

PMID:
23040495
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Human loci involved in drug biotransformation: worldwide genetic variation, population structure, and pharmacogenetic implications.

Maisano Delser P, Fuselli S.

Hum Genet. 2013 May;132(5):563-77. doi: 10.1007/s00439-013-1268-5. Epub 2013 Jan 26.

PMID:
23354977
[PubMed - indexed for MEDLINE]
13.

Population-based variation in cardiomyopathy genes.

Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):391-9. doi: 10.1161/CIRCGENETICS.112.962928. Epub 2012 Jul 4. Erratum in: Circ Cardiovasc Genet. 2012 Oct 1;5(5):e48.

PMID:
22763267
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Imputation-based assessment of next generation rare exome variant arrays.

Martin AR, Tse G, Bustamante CD, Kenny EE.

Pac Symp Biocomput. 2014:241-52.

PMID:
24297551
[PubMed - indexed for MEDLINE]
Free Article
15.

Genotype, haplotype and copy-number variation in worldwide human populations.

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB.

Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742.

PMID:
18288195
[PubMed - indexed for MEDLINE]
16.

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.

Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J; 1000 Genomes Project Consortium, MacArthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G.

Genome Res. 2013 May;23(5):749-61. doi: 10.1101/gr.148718.112. Epub 2013 Mar 11.

PMID:
23478400
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.

Gokcumen O, Zhu Q, Mulder LC, Iskow RC, Austermann C, Scharer CD, Raj T, Boss JM, Sunyaev S, Price A, Stranger B, Simon V, Lee C.

PLoS Genet. 2013 Apr;9(4):e1003404. doi: 10.1371/journal.pgen.1003404. Epub 2013 Apr 11.

PMID:
23593015
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
19.

The landscape of recombination in African Americans.

Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, Bernstein L, Blot WJ, Bock CH, Boerwinkle E, Cai Q, Caporaso N, Casey G, Cupples LA, Deming SL, Diver WR, Divers J, Fornage M, Gillanders EM, Glessner J, Harris CC, Hu JJ, Ingles SA, Isaacs W, John EM, Kao WH, Keating B, Kittles RA, Kolonel LN, Larkin E, Le Marchand L, McNeill LH, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, Nyante S, Papanicolaou GJ, Press MF, Psaty BM, Reiner AP, Rich SS, Rodriguez-Gil JL, Rotter JI, Rybicki BA, Schwartz AG, Signorello LB, Spitz M, Strom SS, Thun MJ, Tucker MA, Wang Z, Wiencke JK, Witte JS, Wrensch M, Wu X, Yamamura Y, Zanetti KA, Zheng W, Ziegler RG, Zhu X, Redline S, Hirschhorn JN, Henderson BE, Taylor HA Jr, Price AL, Hakonarson H, Chanock SJ, Haiman CA, Wilson JG, Reich D, Myers SR.

Nature. 2011 Jul 20;476(7359):170-5. doi: 10.1038/nature10336.

PMID:
21775986
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mitochondrial pathogenic mutations are population-specific.

Breen MS, Kondrashov FA.

Biol Direct. 2010 Dec 31;5:68. doi: 10.1186/1745-6150-5-68.

PMID:
21194457
[PubMed - indexed for MEDLINE]
Free PMC Article

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