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Similar articles for PubMed (Select 22641211)

1.

Exome sequencing and the genetic basis of complex traits.

Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, Gupta N, Sklar P, Sullivan PF, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Lehner T, Shugart YY, Price AL, de Bakker PI, Purcell SM, Sunyaev SR.

Nat Genet. 2012 May 29;44(6):623-30. doi: 10.1038/ng.2303. No abstract available.

2.

Accurate local-ancestry inference in exome-sequenced admixed individuals via off-target sequence reads.

Hu Y, Willer C, Zhan X, Kang HM, Abecasis GR.

Am J Hum Genet. 2013 Nov 7;93(5):891-9. doi: 10.1016/j.ajhg.2013.10.008.

3.

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.

4.

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Guerreiro R, Brás J, Hardy J, Singleton A.

Hum Mol Genet. 2014 Sep 15;23(R1):R47-53. doi: 10.1093/hmg/ddu203. Epub 2014 May 2. Review.

5.

A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.

Cheung YH, Wang G, Leal SM, Wang S.

Genet Epidemiol. 2012 Nov;36(7):675-85. doi: 10.1002/gepi.21662. Epub 2012 Aug 3.

PMID:
22865616
6.

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project—ESP Lung Project Team, Christiani DC, Wurfel MM, Lin X.

Am J Hum Genet. 2012 Aug 10;91(2):224-37. doi: 10.1016/j.ajhg.2012.06.007. Epub 2012 Aug 2.

7.

Exome sequencing as a tool for Mendelian disease gene discovery.

Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J.

Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031. Review.

PMID:
21946919
8.

A survey of tools for variant analysis of next-generation genome sequencing data.

Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, Krabichler B, Speicher MR, Zschocke J, Trajanoski Z.

Brief Bioinform. 2014 Mar;15(2):256-78. doi: 10.1093/bib/bbs086. Epub 2013 Jan 21.

9.

Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population.

Li S, Besenbacher S, Li Y, Kristiansen K, Grarup N, Albrechtsen A, Sparsø T, Korneliussen T, Hansen T, Wang J, Nielsen R, Pedersen O, Bolund L, Schierup MH.

Eur J Hum Genet. 2014 Aug;22(8):1040-5. doi: 10.1038/ejhg.2013.282. Epub 2014 Jan 22.

10.

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

Carson AR, Smith EN, Matsui H, Brækkan SK, Jepsen K, Hansen JB, Frazer KA.

BMC Bioinformatics. 2014 May 2;15:125. doi: 10.1186/1471-2105-15-125.

11.

Multi-perspective quality control of Illumina exome sequencing data using QC3.

Guo Y, Zhao S, Sheng Q, Ye F, Li J, Lehmann B, Pietenpol J, Samuels DC, Shyr Y.

Genomics. 2014 May-Jun;103(5-6):323-8. doi: 10.1016/j.ygeno.2014.03.006. Epub 2014 Apr 3.

PMID:
24703969
12.

Family-based association tests for sequence data, and comparisons with population-based association tests.

Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X.

Eur J Hum Genet. 2013 Oct;21(10):1158-62. doi: 10.1038/ejhg.2012.308. Epub 2013 Feb 6.

13.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
14.

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ.

Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10.

15.

The promise and limitations of population exomics for human evolution studies.

Tennessen JA, O'Connor TD, Bamshad MJ, Akey JM.

Genome Biol. 2011 Sep 14;12(9):127. doi: 10.1186/gb-2011-12-9-127.

16.

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM.

Am J Hum Genet. 2014 Jan 2;94(1):33-46. doi: 10.1016/j.ajhg.2013.11.021. Epub 2013 Dec 19.

17.

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project.

Duan Q, Liu EY, Auer PL, Zhang G, Lange EM, Jun G, Bizon C, Jiao S, Buyske S, Franceschini N, Carlson CS, Hsu L, Reiner AP, Peters U, Haessler J, Curtis K, Wassel CL, Robinson JG, Martin LW, Haiman CA, Le Marchand L, Matise TC, Hindorff LA, Crawford DC, Assimes TL, Kang HM, Heiss G, Jackson RD, Kooperberg C, Wilson JG, Abecasis GR, North KE, Nickerson DA, Lange LA, Li Y.

Bioinformatics. 2013 Nov 1;29(21):2744-9. doi: 10.1093/bioinformatics/btt477. Epub 2013 Aug 16.

18.

Exome sequencing and the genetics of intellectual disability.

Topper S, Ober C, Das S.

Clin Genet. 2011 Aug;80(2):117-26. doi: 10.1111/j.1399-0004.2011.01720.x. Epub 2011 Jun 15. Review.

19.

Exome and whole-genome sequencing for gene discovery: the future is now!

Majewski J, Rosenblatt DS.

Hum Mutat. 2012 Apr;33(4):591-2. doi: 10.1002/humu.22055. No abstract available.

PMID:
22411407
20.

Model-based quality assessment and base-calling for second-generation sequencing data.

Bravo HC, Irizarry RA.

Biometrics. 2010 Sep;66(3):665-74. doi: 10.1111/j.1541-0420.2009.01353.x. Review.

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