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Items: 1 to 20 of 122

1.

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.

Di Resta C, Galbiati S, Carrera P, Ferrari M.

EJIFCC. 2018 Apr 30;29(1):4-14. eCollection 2018 Apr.

2.

A Secure Alignment Algorithm for Mapping Short Reads to Human Genome.

Zhao Y, Wang X, Tang H.

J Comput Biol. 2018 Jun;25(6):529-540. doi: 10.1089/cmb.2017.0094. Epub 2018 May 9.

PMID:
29741956
3.

Opportunities and obstacles for deep learning in biology and medicine.

Ching T, Himmelstein DS, Beaulieu-Jones BK, Kalinin AA, Do BT, Way GP, Ferrero E, Agapow PM, Zietz M, Hoffman MM, Xie W, Rosen GL, Lengerich BJ, Israeli J, Lanchantin J, Woloszynek S, Carpenter AE, Shrikumar A, Xu J, Cofer EM, Lavender CA, Turaga SC, Alexandari AM, Lu Z, Harris DJ, DeCaprio D, Qi Y, Kundaje A, Peng Y, Wiley LK, Segler MHS, Boca SM, Swamidass SJ, Huang A, Gitter A, Greene CS.

J R Soc Interface. 2018 Apr;15(141). pii: 20170387. doi: 10.1098/rsif.2017.0387. Review.

4.

Cloud-based adaptive exon prediction for DNA analysis.

Putluri S, Zia Ur Rahman M, Fathima SY.

Healthc Technol Lett. 2018 Jan 22;5(1):25-30. doi: 10.1049/htl.2017.0032. eCollection 2018 Feb.

5.

Integrative omics for health and disease.

Karczewski KJ, Snyder MP.

Nat Rev Genet. 2018 May;19(5):299-310. doi: 10.1038/nrg.2018.4. Epub 2018 Feb 26. Review.

6.

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study.

Marino P, Touzani R, Perrier L, Rouleau E, Kossi DS, Zhaomin Z, Charrier N, Goardon N, Preudhomme C, Durand-Zaleski I, Borget I, Baffert S; NGSEco Group: .

Eur J Hum Genet. 2018 Mar;26(3):314-323. doi: 10.1038/s41431-017-0081-3. Epub 2018 Jan 24. Erratum in: Eur J Hum Genet. 2018 Jun 15;:.

PMID:
29367707
7.

GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service.

Wang Y, Li G, Ma M, He F, Song Z, Zhang W, Wu C.

BMC Genomics. 2018 Jan 19;19(Suppl 1):959. doi: 10.1186/s12864-017-4334-x.

8.

Viral Diagnostics in Plants Using Next Generation Sequencing: Computational Analysis in Practice.

Jones S, Baizan-Edge A, MacFarlane S, Torrance L.

Front Plant Sci. 2017 Oct 24;8:1770. doi: 10.3389/fpls.2017.01770. eCollection 2017. Review.

9.

paraGSEA: a scalable approach for large-scale gene expression profiling.

Peng S, Yang S, Bo X, Li F.

Nucleic Acids Res. 2017 Sep 29;45(17):e155. doi: 10.1093/nar/gkx679.

10.

GenomeVIP: a cloud platform for genomic variant discovery and interpretation.

Mashl RJ, Scott AD, Huang KL, Wyczalkowski MA, Yoon CJ, Niu B, DeNardo E, Yellapantula VD, Handsaker RE, Chen K, Koboldt DC, Ye K, Fenyö D, Raphael BJ, Wendl MC, Ding L.

Genome Res. 2017 Aug;27(8):1450-1459. doi: 10.1101/gr.211656.116. Epub 2017 May 18.

11.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW.

Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

12.

MC-GenomeKey: a multicloud system for the detection and annotation of genomic variants.

Elshazly H, Souilmi Y, Tonellato PJ, Wall DP, Abouelhoda M.

BMC Bioinformatics. 2017 Jan 20;18(1):49. doi: 10.1186/s12859-016-1454-2.

13.

A cloud-based workflow to quantify transcript-expression levels in public cancer compendia.

Tatlow PJ, Piccolo SR.

Sci Rep. 2016 Dec 16;6:39259. doi: 10.1038/srep39259.

14.

Microbial Ecology: Where are we now?

Boughner LA, Singh P.

Postdoc J. 2016 Nov;4(11):3-17. doi: 10.14304/SURYA.JPR.V4N11.2.

15.

Precision medicine in pediatric oncology: Lessons learned and next steps.

Mody RJ, Prensner JR, Everett J, Parsons DW, Chinnaiyan AM.

Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26288. Epub 2016 Oct 17. Review.

16.

Rail-RNA: scalable analysis of RNA-seq splicing and coverage.

Nellore A, Collado-Torres L, Jaffe AE, Alquicira-Hernández J, Wilks C, Pritt J, Morton J, Leek JT, Langmead B.

Bioinformatics. 2017 Dec 15;33(24):4033-4040. doi: 10.1093/bioinformatics/btw575.

PMID:
27592709
17.

Analysis of Metagenomics Next Generation Sequence Data for Fungal ITS Barcoding: Do You Need Advance Bioinformatics Experience?

Ahmed A.

Front Microbiol. 2016 Jul 26;7:1061. doi: 10.3389/fmicb.2016.01061. eCollection 2016.

18.

Recommendations on e-infrastructures for next-generation sequencing.

Spjuth O, Bongcam-Rudloff E, Dahlberg J, Dahlö M, Kallio A, Pireddu L, Vezzi F, Korpelainen E.

Gigascience. 2016 Jun 7;5:26. doi: 10.1186/s13742-016-0132-7. Review.

19.

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.

20.

A case study for cloud based high throughput analysis of NGS data using the globus genomics system.

Bhuvaneshwar K, Sulakhe D, Gauba R, Rodriguez A, Madduri R, Dave U, Lacinski L, Foster I, Gusev Y, Madhavan S.

Comput Struct Biotechnol J. 2014 Nov 7;13:64-74. doi: 10.1016/j.csbj.2014.11.001. eCollection 2015.

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