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Items: 1 to 20 of 97


The role of replicates for error mitigation in next-generation sequencing.

Robasky K, Lewis NE, Church GM.

Nat Rev Genet. 2014 Jan;15(1):56-62. doi: 10.1038/nrg3655. Review.


Sequencing error correction without a reference genome.

Sleep JA, Schreiber AW, Baumann U.

BMC Bioinformatics. 2013 Dec 18;14:367. doi: 10.1186/1471-2105-14-367.


Primer ID Validates Template Sampling Depth and Greatly Reduces the Error Rate of Next-Generation Sequencing of HIV-1 Genomic RNA Populations.

Zhou S, Jones C, Mieczkowski P, Swanstrom R.

J Virol. 2015 Aug;89(16):8540-55. doi: 10.1128/JVI.00522-15.


Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.

Hollegaard MV, Grauholm J, Nielsen R, Grove J, Mandrup S, Hougaard DM.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):65-72. doi: 10.1016/j.ymgme.2013.06.004.


Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

Beck TF, Mullikin JC; NISC Comparative Sequencing Program., Biesecker LG.

Clin Chem. 2016 Apr;62(4):647-54. doi: 10.1373/clinchem.2015.249623.


High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing.

Lou DI, Hussmann JA, McBee RM, Acevedo A, Andino R, Press WH, Sawyer SL.

Proc Natl Acad Sci U S A. 2013 Dec 3;110(49):19872-7. doi: 10.1073/pnas.1319590110.


Technology-specific error signatures in the 1000 Genomes Project data.

Nothnagel M, Herrmann A, Wolf A, Schreiber S, Platzer M, Siebert R, Krawczak M, Hampe J.

Hum Genet. 2011 Oct;130(4):505-16. doi: 10.1007/s00439-011-0971-3.


Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments.

Qi Y, Liu X, Liu CG, Wang B, Hess KR, Symmans WF, Shi W, Pusztai L.

PLoS One. 2015 Jul 2;10(7):e0119230. doi: 10.1371/journal.pone.0119230.


Ten years of next-generation sequencing technology.

van Dijk EL, Auger H, Jaszczyszyn Y, Thermes C.

Trends Genet. 2014 Sep;30(9):418-26. doi: 10.1016/j.tig.2014.07.001. Review.


HLA typing by next-generation sequencing - getting closer to reality.

Gabriel C, Fürst D, Faé I, Wenda S, Zollikofer C, Mytilineos J, Fischer GF.

Tissue Antigens. 2014 Feb;83(2):65-75. doi: 10.1111/tan.12298. Review.


Analysis and optimal design for association studies using next-generation sequencing with case-control pools.

Liang WE, Thomas DC, Conti DV.

Genet Epidemiol. 2012 Dec;36(8):870-81. doi: 10.1002/gepi.21681.


Estimating genotype error rates from high-coverage next-generation sequence data.

Wall JD, Tang LF, Zerbe B, Kvale MN, Kwok PY, Schaefer C, Risch N.

Genome Res. 2014 Nov;24(11):1734-9. doi: 10.1101/gr.168393.113.


Toward better understanding of artifacts in variant calling from high-coverage samples.

Li H.

Bioinformatics. 2014 Oct 15;30(20):2843-51. doi: 10.1093/bioinformatics/btu356. Review.


Comparison of sequencing platforms for single nucleotide variant calls in a human sample.

Ratan A, Miller W, Guillory J, Stinson J, Seshagiri S, Schuster SC.

PLoS One. 2013;8(2):e55089. doi: 10.1371/journal.pone.0055089.


Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL.

Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183.


Standardized decision support in next generation sequencing reports of somatic cancer variants.

Dienstmann R, Dong F, Borger D, Dias-Santagata D, Ellisen LW, Le LP, Iafrate AJ.

Mol Oncol. 2014 Jul;8(5):859-73. doi: 10.1016/j.molonc.2014.03.021. Review.


Distinguishing low frequency mutations from RT-PCR and sequence errors in viral deep sequencing data.

Orton RJ, Wright CF, Morelli MJ, King DJ, Paton DJ, King DP, Haydon DT.

BMC Genomics. 2015 Mar 24;16:229. doi: 10.1186/s12864-015-1456-x.


Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies.

Standish KA, Carland TM, Lockwood GK, Pfeiffer W, Tatineni M, Huang CC, Lamberth S, Cherkas Y, Brodmerkel C, Jaeger E, Smith L, Rajagopal G, Curran ME, Schork NJ.

BMC Bioinformatics. 2015 Sep 22;16:304. doi: 10.1186/s12859-015-0736-4.


Variant callers for next-generation sequencing data: a comparison study.

Liu X, Han S, Wang Z, Gelernter J, Yang BZ.

PLoS One. 2013 Sep 27;8(9):e75619. doi: 10.1371/journal.pone.0075619.

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