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Items: 1 to 20 of 102

1.

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.

Lyon GJ, Wang K.

Genome Med. 2012 Jul 26;4(7):58. doi: 10.1186/gm359. eCollection 2012. Review.

2.

Enhancement of Plant Productivity in the Post-Genomics Era.

Thao NP, Tran LS.

Curr Genomics. 2016 Aug;17(4):295-6. doi: 10.2174/138920291704160607182507.

3.

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.

Worthey EA.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 9.24.. doi: 10.1002/0471142905.hg0924s79.

PMID:
24510652
4.

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

Zhang JF, James F, Shukla A, Girisha KM, Paciorkowski AR.

BMC Res Notes. 2017 Jun 27;10(1):233. doi: 10.1186/s13104-017-2556-2.

5.

Exome sequencing explained: a practical guide to its clinical application.

Seaby EG, Pengelly RJ, Ennis S.

Brief Funct Genomics. 2016 Sep;15(5):374-84. doi: 10.1093/bfgp/elv054. Epub 2015 Dec 9.

PMID:
26654982
6.

Genomic medicine and risk prediction across the disease spectrum.

Kotze MJ, L├╝ckhoff HK, Peeters AV, Baatjes K, Schoeman M, van der Merwe L, Grant KA, Fisher LR, van der Merwe N, Pretorius J, van Velden DP, Myburgh EJ, Pienaar FM, van Rensburg SJ, Yako YY, September AV, Moremi KE, Cronje FJ, Tiffin N, Bouwens CS, Bezuidenhout J, Apffelstaedt JP, Hough FS, Erasmus RT, Schneider JW.

Crit Rev Clin Lab Sci. 2015;52(3):120-37. doi: 10.3109/10408363.2014.997930. Epub 2015 Jan 19. Review.

PMID:
25597499
7.

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.

Chakravorty S, Hegde M.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:229-256. doi: 10.1146/annurev-genom-083115-022545. Epub 2017 Apr 17.

PMID:
28415856
8.

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS.

Clin Genet. 2016 Jan;89(1):10-9. doi: 10.1111/cge.12579. Epub 2015 Mar 24. Review.

PMID:
25813238
9.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.

Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL.

Contemp Clin Trials. 2014 Sep;39(1):1-8. doi: 10.1016/j.cct.2014.06.016. Epub 2014 Jul 3.

10.

Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape.

Vis DJ, Lewin J, Liao RG, Mao M, Andre F, Ward RL, Calvo F, Teh BT, Camargo AA, Knoppers BM, Sawyers CL, Wessels LFA, Lawler M, Siu LL, Voest E; Clinical Working Group of the Global Alliance for Genomics and Health.

Ann Oncol. 2017 May 1;28(5):1145-1151. doi: 10.1093/annonc/mdx037.

11.

[Aiming for zero blindness].

Nakazawa T.

Nippon Ganka Gakkai Zasshi. 2015 Mar;119(3):168-93; discussion 194. Review. Japanese.

PMID:
25854109
12.

Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.

Lyon GJ, Segal JP.

Appl Transl Genom. 2013 Feb 26;2:34-40. eCollection 2013 Dec 1. Review.

13.

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

14.

AACR precision medicine series: Highlights of the integrating clinical genomics and cancer therapy meeting.

Maggi E, Montagna C.

Mutat Res. 2015 Dec;782:44-51. doi: 10.1016/j.mrfmmm.2015.10.005. Epub 2015 Nov 3.

PMID:
26554403
15.

Disease gene identification strategies for exome sequencing.

Gilissen C, Hoischen A, Brunner HG, Veltman JA.

Eur J Hum Genet. 2012 May;20(5):490-7. doi: 10.1038/ejhg.2011.258. Epub 2012 Jan 18. Review.

16.

Genomic sequencing in clinical practice: applications, challenges, and opportunities.

Krier JB, Kalia SS, Green RC.

Dialogues Clin Neurosci. 2016 Sep;18(3):299-312. Review.

17.

[Development of antituberculous drugs: current status and future prospects].

Tomioka H, Namba K.

Kekkaku. 2006 Dec;81(12):753-74. Review. Japanese.

PMID:
17240921
18.

Usability study of clinical exome analysis software: top lessons learned and recommendations.

Shyr C, Kushniruk A, Wasserman WW.

J Biomed Inform. 2014 Oct;51:129-36. doi: 10.1016/j.jbi.2014.05.004. Epub 2014 May 24.

19.

Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.

Shameer K, Tripathi LP, Kalari KR, Dudley JT, Sowdhamini R.

Brief Bioinform. 2016 Sep;17(5):841-62. doi: 10.1093/bib/bbv084. Epub 2015 Oct 22.

PMID:
26494363
20.

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