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Items: 1 to 20 of 99

1.

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.

Thompson R, Drew CJ, Thomas RH.

Adv Protein Chem Struct Biol. 2012;89:27-63. doi: 10.1016/B978-0-12-394287-6.00002-1. Review.

PMID:
23046881
2.

Next generation sequencing--implications for clinical practice.

Raffan E, Semple RK.

Br Med Bull. 2011;99:53-71. doi: 10.1093/bmb/ldr029. Epub 2011 Jun 23.

PMID:
21705347
3.

Opportunities and challenges of whole-genome and -exome sequencing.

Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A.

BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5. Review.

4.

Exome sequencing: dual role as a discovery and diagnostic tool.

Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R.

Ann Neurol. 2012 Jan;71(1):5-14. doi: 10.1002/ana.22647. Review.

PMID:
22275248
5.

Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling.

O'Daniel JM, Lee K.

Cancer J. 2012 Jul-Aug;18(4):287-92. doi: 10.1097/PPO.0b013e318262467e. Review.

PMID:
22846728
6.

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
7.

Clinical implementation of next-generation sequencing.

Press RD.

Clin Adv Hematol Oncol. 2014 Apr;12(4):263-5. No abstract available.

PMID:
25003357
8.

Translating exome sequencing from research to clinical diagnostics.

Coonrod EM, Margraf RL, Voelkerding KV.

Clin Chem Lab Med. 2011 Dec 23;50(7):1161-8. doi: 10.1515/cclm-2011-0841. Review.

PMID:
22850020
9.

The Rise and Rise of Exome Sequencing.

Ku CS, Cooper DN, Patrinos GP.

Public Health Genomics. 2016;19(6):315-324. doi: 10.1159/000450991. Epub 2016 Nov 30. Review.

10.

High throughput sequencing: next generation methods.

Brunstein J.

MLO Med Lab Obs. 2013 Oct;45(10):36, 38-9. No abstract available.

PMID:
24294696
11.

Whole-exome/genome sequencing and genomics.

Grody WW, Thompson BH, Hudgins L.

Pediatrics. 2013 Dec;132(Suppl 3):S211-5. doi: 10.1542/peds.2013-1032E.

12.

Challenges of using next generation sequencing in newborn screening.

Reinstein E.

Genet Res (Camb). 2015 Nov 2;97:e21. doi: 10.1017/S0016672315000178.

PMID:
26521961
13.

What can exome sequencing do for you?

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N.

J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. Review.

PMID:
21730106
14.

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.

PMID:
25924657
15.

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.

16.

Next-generation sequencing - feasibility and practicality in haematology.

Kohlmann A, Grossmann V, Nadarajah N, Haferlach T.

Br J Haematol. 2013 Mar;160(6):736-53. doi: 10.1111/bjh.12194. Epub 2013 Jan 7. Review.

PMID:
23294427
17.

Novel bioinformatic developments for exome sequencing.

Lelieveld SH, Veltman JA, Gilissen C.

Hum Genet. 2016 Jun;135(6):603-14. doi: 10.1007/s00439-016-1658-6. Epub 2016 Apr 13. Review.

18.

[Gene mutations; up date].

Nakagawa M.

Rinsho Shinkeigaku. 2013;53(11):903-6. Review. Japanese.

PMID:
24291829
19.

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
20.

Advancements in Next-Generation Sequencing.

Levy SE, Myers RM.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:95-115. doi: 10.1146/annurev-genom-083115-022413. Epub 2016 Jun 9. Review.

PMID:
27362342

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