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Items: 1 to 20 of 82

1.

High-quality DNA sequence capture of 524 disease candidate genes.

Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C.

Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6549-54. doi: 10.1073/pnas.1018981108. Epub 2011 Apr 5.

2.

Exome-wide DNA capture and next generation sequencing in domestic and wild species.

Cosart T, Beja-Pereira A, Chen S, Ng SB, Shendure J, Luikart G.

BMC Genomics. 2011 Jul 5;12:347. doi: 10.1186/1471-2164-12-347.

3.

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X, Ju X, Yi X, Zhu Q, Qu N, Liu T, Chen Y, Jiang H, Yang G, Zhen R, Lan Z, Qi M, Wang J, Yang Y, Chu Y, Li X, Guang Y, Huang J.

PLoS One. 2011;6(12):e29500. doi: 10.1371/journal.pone.0029500. Epub 2011 Dec 21.

4.

Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes.

Varley KE, Mitra RD.

Genome Res. 2008 Nov;18(11):1844-50. doi: 10.1101/gr.078204.108. Epub 2008 Oct 10.

5.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC.

Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16.

6.

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.

Kobe J Med Sci. 2007;53(5):229-40.

7.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

8.

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries.

Mokry M, Feitsma H, Nijman IJ, de Bruijn E, van der Zaag PJ, Guryev V, Cuppen E.

Nucleic Acids Res. 2010 Jun;38(10):e116. doi: 10.1093/nar/gkq072. Epub 2010 Feb 17.

9.

A comprehensive assay for targeted multiplex amplification of human DNA sequences.

Krishnakumar S, Zheng J, Wilhelmy J, Faham M, Mindrinos M, Davis R.

Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9296-301. doi: 10.1073/pnas.0803240105. Epub 2008 Jul 2.

10.

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.

Wu J, Grzeda KR, Stewart C, Grubert F, Urban AE, Snyder MP, Marth GT.

BMC Bioinformatics. 2012 Nov 17;13:305. doi: 10.1186/1471-2105-13-305.

11.

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X.

Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.

PMID:
24161253
12.

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF.

BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646.

13.

Targeted multiplex next-generation sequencing: advances in techniques of mitochondrial and nuclear DNA sequencing for population genomics.

Hancock-Hanser BL, Frey A, Leslie MS, Dutton PH, Archer FI, Morin PA.

Mol Ecol Resour. 2013 Mar;13(2):254-68. doi: 10.1111/1755-0998.12059. Epub 2013 Jan 25.

PMID:
23351075
14.

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T.

Hum Mutat. 2008 Sep;29(9):1083-90. doi: 10.1002/humu.20829.

PMID:
18683213
15.

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM.

Am J Hum Genet. 2012 Oct 5;91(4):597-607. doi: 10.1016/j.ajhg.2012.08.005.

16.

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M, Lo KS, N'Diaye A, Rivas MA, Dubé MP, Laplante N, Phillips MS, Rioux JD, Tardif JC, Lettre G.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):547-54. doi: 10.1161/CIRCGENETICS.112.963165. Epub 2012 Aug 25.

17.

Multiplex amplification of large sets of human exons.

Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, LeProust EM, Peck BJ, Emig CJ, Dahl F, Gao Y, Church GM, Shendure J.

Nat Methods. 2007 Nov;4(11):931-6. Epub 2007 Oct 14.

PMID:
17934468
18.

Accurate detection and genotyping of SNPs utilizing population sequencing data.

Bansal V, Harismendy O, Tewhey R, Murray SS, Schork NJ, Topol EJ, Frazer KA.

Genome Res. 2010 Apr;20(4):537-45. doi: 10.1101/gr.100040.109. Epub 2010 Feb 11.

19.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Review.

PMID:
21331778
20.

Exon expression arrays as a tool to identify new cancer genes.

Schutte M, Elstrodt F, Bralten LB, Nagel JH, Duijm E, Hollestelle A, Vuerhard MJ, Wasielewski M, Peeters JK, van der Spek P, Sillevis Smitt PA, French PJ.

PLoS One. 2007 Aug 20;3(8):e3007. doi: 10.1371/journal.pone.0003007.

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