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Items: 1 to 20 of 71

1.

Clinical implications of human population differences in genome-wide rates of functional genotypes.

Torkamani A, Pham P, Libiger O, Bansal V, Zhang G, Scott-Van Zeeland AA, Tewhey R, Topol EJ, Schork NJ.

Front Genet. 2012 Nov 1;3:211. doi: 10.3389/fgene.2012.00211. eCollection 2012.

2.

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.

Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ.

J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19.

3.

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.

4.

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.

5.

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.

6.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO.

PLoS Comput Biol. 2010 Nov 11;6(11):e1000988. doi: 10.1371/journal.pcbi.1000988.

7.

Analysis of the genome-wide variations among multiple strains of the plant pathogenic bacterium Xylella fastidiosa.

Doddapaneni H, Yao J, Lin H, Walker MA, Civerolo EL.

BMC Genomics. 2006 Sep 1;7:225.

8.

Pedigree based DNA sequencing pipeline for germline genomes of cancer families.

Försti A, Kumar A, Paramasivam N, Schlesner M, Catalano C, Dymerska D, Lubinski J, Eils R, Hemminki K.

Hered Cancer Clin Pract. 2016 Aug 9;14:16. doi: 10.1186/s13053-016-0058-1. eCollection 2016.

9.

Deep sequencing of 10,000 human genomes.

Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC.

Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11901-11906. Epub 2016 Oct 4.

10.

Whole genome sequence of a Turkish individual.

Dogan H, Can H, Otu HH.

PLoS One. 2014 Jan 9;9(1):e85233. doi: 10.1371/journal.pone.0085233. eCollection 2014.

11.

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics.

Moore B, Hu H, Singleton M, De La Vega FM, Reese MG, Yandell M.

Genet Med. 2011 Mar;13(3):210-7. doi: 10.1097/GIM.0b013e31820ed321.

12.

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.

Meltz Steinberg K, Nicholas TJ, Koboldt DC, Yu B, Mardis E, Pamphlett R.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):385-92. doi: 10.3109/21678421.2015.1040029. Epub 2015 May 11.

PMID:
25960086
13.

A highly annotated whole-genome sequence of a Korean individual.

Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS.

Nature. 2009 Aug 20;460(7258):1011-5. doi: 10.1038/nature08211. Epub 2009 Jul 8.

14.

Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.

Doan R, Cohen ND, Sawyer J, Ghaffari N, Johnson CD, Dindot SV.

BMC Genomics. 2012 Feb 17;13:78. doi: 10.1186/1471-2164-13-78.

15.

Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.

Ananda G, Hile SE, Breski A, Wang Y, Kelkar Y, Makova KD, Eckert KA.

PLoS Genet. 2014 Jul 17;10(7):e1004498. doi: 10.1371/journal.pgen.1004498. eCollection 2014 Jul.

16.

Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa.

Alkan C, Kavak P, Somel M, Gokcumen O, Ugurlu S, Saygi C, Dal E, Bugra K, Güngör T, Sahinalp SC, Özören N, Bekpen C.

BMC Genomics. 2014 Nov 7;15:963. doi: 10.1186/1471-2164-15-963.

17.

Discovery of common sequences absent in the human reference genome using pooled samples from next generation sequencing.

Liu Y, Koyutürk M, Maxwell S, Xiang M, Veigl M, Cooper RS, Tayo BO, Li L, LaFramboise T, Wang Z, Zhu X, Chance MR.

BMC Genomics. 2014 Aug 16;15:685. doi: 10.1186/1471-2164-15-685.

18.

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.

Pistis G, Porcu E, Vrieze SI, Sidore C, Steri M, Danjou F, Busonero F, Mulas A, Zoledziewska M, Maschio A, Brennan C, Lai S, Miller MB, Marcelli M, Urru MF, Pitzalis M, Lyons RH, Kang HM, Jones CM, Angius A, Iacono WG, Schlessinger D, McGue M, Cucca F, Abecasis GR, Sanna S.

Eur J Hum Genet. 2015 Jul;23(7):975-83. doi: 10.1038/ejhg.2014.216. Epub 2014 Oct 8.

19.

Annotation of functional variation in personal genomes using RegulomeDB.

Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M.

Genome Res. 2012 Sep;22(9):1790-7. doi: 10.1101/gr.137323.112.

20.

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.

Daetwyler HD, Capitan A, Pausch H, Stothard P, van Binsbergen R, Brøndum RF, Liao X, Djari A, Rodriguez SC, Grohs C, Esquerré D, Bouchez O, Rossignol MN, Klopp C, Rocha D, Fritz S, Eggen A, Bowman PJ, Coote D, Chamberlain AJ, Anderson C, VanTassell CP, Hulsegge I, Goddard ME, Guldbrandtsen B, Lund MS, Veerkamp RF, Boichard DA, Fries R, Hayes BJ.

Nat Genet. 2014 Aug;46(8):858-65. doi: 10.1038/ng.3034. Epub 2014 Jul 13.

PMID:
25017103

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