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Results: 1 to 20 of 117

1.

Assessing the enrichment performance in targeted resequencing experiments.

Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Nürnberg P.

Hum Mutat. 2012 Apr;33(4):635-41. doi: 10.1002/humu.22036. Epub 2012 Feb 28.

PMID:
22290614
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Elsharawy A, Forster M, Schracke N, Keller A, Thomsen I, Petersen BS, Stade B, Stähler P, Schreiber S, Rosenstiel P, Franke A.

BMC Genomics. 2012 Aug 22;13:417. doi: 10.1186/1471-2164-13-417.

PMID:
22913592
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Whole exome and whole genome sequencing.

Bick D, Dimmock D.

Curr Opin Pediatr. 2011 Dec;23(6):594-600. doi: 10.1097/MOP.0b013e32834b20ec. Review.

PMID:
21881504
[PubMed - indexed for MEDLINE]
5.

Exome versus transcriptome sequencing in identifying coding region variants.

Ku CS, Wu M, Cooper DN, Naidoo N, Pawitan Y, Pang B, Iacopetta B, Soong R.

Expert Rev Mol Diagn. 2012 Apr;12(3):241-51. doi: 10.1586/erm.12.10. Review.

PMID:
22468815
[PubMed - indexed for MEDLINE]
6.

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform.

Summerer D, Schracke N, Wu H, Cheng Y, Bau S, Stähler CF, Stähler PF, Beier M.

Genomics. 2010 Apr;95(4):241-6. doi: 10.1016/j.ygeno.2010.01.006. Epub 2010 Feb 6.

PMID:
20138981
[PubMed - indexed for MEDLINE]
Free Article
7.

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis.

Guo Y, Li J, Li CI, Shyr Y, Samuels DC.

Bioinformatics. 2013 May 1;29(9):1210-1. doi: 10.1093/bioinformatics/btt118. Epub 2013 Mar 6.

PMID:
23471301
[PubMed - indexed for MEDLINE]
Free Article
8.

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.

Harakalova M, Mokry M, Hrdlickova B, Renkens I, Duran K, van Roekel H, Lansu N, van Roosmalen M, de Bruijn E, Nijman IJ, Kloosterman WP, Cuppen E.

Nat Protoc. 2011 Nov 3;6(12):1870-86. doi: 10.1038/nprot.2011.396.

PMID:
22051800
[PubMed - indexed for MEDLINE]
9.

Next generation sequencing: the technology we need in pediatric laboratories?

Couderc R, Jonard L, Louha M.

Clin Biochem. 2011 May;44(7):514-5. doi: 10.1016/j.clinbiochem.2011.02.030. No abstract available.

PMID:
22036354
[PubMed - indexed for MEDLINE]
10.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Priya RR, Rajasimha HK, Brooks MJ, Swaroop A.

Methods Mol Biol. 2012;884:335-51. doi: 10.1007/978-1-61779-848-1_24.

PMID:
22688718
[PubMed - indexed for MEDLINE]
11.

New DNA sequencing technologies open a promising era for cancer research and treatment.

Sastre L.

Clin Transl Oncol. 2011 May;13(5):301-6. doi: 10.1007/s12094-011-0658-1. Review.

PMID:
21596657
[PubMed - indexed for MEDLINE]
12.

Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.

Kiialainen A, Karlberg O, Ahlford A, Sigurdsson S, Lindblad-Toh K, Syvänen AC.

PLoS One. 2011 Feb 9;6(2):e16486. doi: 10.1371/journal.pone.0016486.

PMID:
21347407
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A modified method for whole exome resequencing from minimal amounts of starting DNA.

Kozarewa I, Rosa-Rosa JM, Wardell CP, Walker BA, Fenwick K, Assiotis I, Mitsopoulos C, Zvelebil M, Morgan GJ, Ashworth A, Lord CJ.

PLoS One. 2012;7(3):e32617. doi: 10.1371/journal.pone.0032617. Epub 2012 Mar 5. Erratum in: PLoS One. 2012;7(4): doi/10.1371/annotation/5b071c93-9fa8-4be6-9cbd-95aead146305. J, Christopher [corrected Lord, Christopher J].

PMID:
22403682
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.

Ku CS, Wu M, Cooper DN, Naidoo N, Pawitan Y, Pang B, Iacopetta B, Soong R.

Expert Rev Mol Diagn. 2012 Mar;12(2):159-73. doi: 10.1586/erm.11.95. Review.

PMID:
22369376
[PubMed - indexed for MEDLINE]
15.

Variant discovery in targeted resequencing using whole genome amplified DNA.

Indap AR, Cole R, Runge CL, Marth GT, Olivier M.

BMC Genomics. 2013 Jul 10;14:468. doi: 10.1186/1471-2164-14-468.

PMID:
23837845
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

WEP: a high-performance analysis pipeline for whole-exome data.

D'Antonio M, D'Onorio De Meo P, Paoletti D, Elmi B, Pallocca M, Sanna N, Picardi E, Pesole G, Castrignanò T.

BMC Bioinformatics. 2013;14 Suppl 7:S11. doi: 10.1186/1471-2105-14-S7-S11. Epub 2013 Apr 22.

PMID:
23815231
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A window into third-generation sequencing.

Schadt EE, Turner S, Kasarskis A.

Hum Mol Genet. 2010 Oct 15;19(R2):R227-40. doi: 10.1093/hmg/ddq416. Epub 2010 Sep 21. Review. Erratum in: Hum Mol Genet. 2011 Feb 15;20(4):853.

PMID:
20858600
[PubMed - indexed for MEDLINE]
Free Article
18.

HTSanalyzeR: an R/Bioconductor package for integrated network analysis of high-throughput screens.

Wang X, Terfve C, Rose JC, Markowetz F.

Bioinformatics. 2011 Mar 15;27(6):879-80. doi: 10.1093/bioinformatics/btr028. Epub 2011 Jan 22.

PMID:
21258062
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Detecting Alu insertions from high-throughput sequencing data.

David M, Mustafa H, Brudno M.

Nucleic Acids Res. 2013 Sep;41(17):e169. doi: 10.1093/nar/gkt612. Epub 2013 Aug 5.

PMID:
23921633
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Targeted deep resequencing of the human cancer genome using next-generation technologies.

Myllykangas S, Ji HP.

Biotechnol Genet Eng Rev. 2010;27:135-58. Review.

PMID:
21415896
[PubMed - indexed for MEDLINE]

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