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Items: 1 to 20 of 106


Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.

Nagy PL, Worman HJ.

Methods Mol Biol. 2018;1840:321-336. doi: 10.1007/978-1-4939-8691-0_22.


More Pitfalls Related to Next-generation Sequencing (NGS).

Sorscher S.

Am J Clin Oncol. 2016 Aug;39(4):424. doi: 10.1097/COC.0000000000000280. No abstract available.


Next-generation sequencing in the clinic: promises and challenges.

Xuan J, Yu Y, Qing T, Guo L, Shi L.

Cancer Lett. 2013 Nov 1;340(2):284-95. doi: 10.1016/j.canlet.2012.11.025. Epub 2012 Nov 19. Review.


Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC.

Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x.


Tilling by sequencing.

Tsai H, Ngo K, Lieberman M, Missirian V, Comai L.

Methods Mol Biol. 2015;1284:359-80. doi: 10.1007/978-1-4939-2444-8_18.


CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.

Münz M, Ruark E, Renwick A, Ramsay E, Clarke M, Mahamdallie S, Cloke V, Seal S, Strydom A, Lunter G, Rahman N.

Genome Med. 2015 Jul 28;7:76. doi: 10.1186/s13073-015-0195-6.


mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J.

J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656. Epub 2015 Jan 16.


Library Construction for Mutation Identification by Whole-Genome Sequencing.

Smith HE.

Methods Mol Biol. 2015;1327:1-9. doi: 10.1007/978-1-4939-2842-2_1.


Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.

Smith A, Boycott KM, Jarinova O.

Hum Mutat. 2014 Feb;35(2):265-9. doi: 10.1002/humu.22480. Epub 2013 Nov 27.


Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC.

PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017.


Identification of mutations in zebrafish using next-generation sequencing.

Henke K, Bowen ME, Harris MP.

Curr Protoc Mol Biol. 2013 Oct 11;104:Unit 7.13. doi: 10.1002/0471142727.mb0713s104.


Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.

Dilliott AA, Farhan SMK, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Lang A, Tartaglia C, Finger E, Zinman L, Turnbull J, Freedman M, Swartz R, Black SE, Hegele RA.

J Vis Exp. 2018 Apr 4;(134). doi: 10.3791/57266.


Challenges in exome analysis by LifeScope and its alternative computational pipelines.

Pranckevičiene E, Rančelis T, Pranculis A, Kučinskas V.

BMC Res Notes. 2015 Sep 7;8:421. doi: 10.1186/s13104-015-1385-4.


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.


Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.

Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.

BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.


MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics.

Pandey RV, Pabinger S, Kriegner A, Weinhäusel A.

PLoS One. 2016 Feb 3;11(2):e0147697. doi: 10.1371/journal.pone.0147697. eCollection 2016.


From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Laurie S, Fernandez-Callejo M, Marco-Sola S, Trotta JR, Camps J, Chacón A, Espinosa A, Gut M, Gut I, Heath S, Beltran S.

Hum Mutat. 2016 Dec;37(12):1263-1271. doi: 10.1002/humu.23114. Epub 2016 Sep 26.


Integrated next-generation sequencing analysis of whole exome and 409 cancer-related genes.

Shimoda Y, Nagashima T, Urakami K, Tanabe T, Saito J, Naruoka A, Serizawa M, Mochizuki T, Ohshima K, Ohnami S, Ohnami S, Kusuhara M, Yamaguchi K.

Biomed Res. 2016;37(6):367-379. doi: 10.2220/biomedres.37.367.


Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.

Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A.

Int J Mol Sci. 2017 Jan 31;18(2). pii: E308. doi: 10.3390/ijms18020308. Review.


Low-Cost, High-Throughput Sequencing of DNA Assemblies Using a Highly Multiplexed Nextera Process.

Shapland EB, Holmes V, Reeves CD, Sorokin E, Durot M, Platt D, Allen C, Dean J, Serber Z, Newman J, Chandran S.

ACS Synth Biol. 2015 Jul 17;4(7):860-6. doi: 10.1021/sb500362n. Epub 2015 May 6.


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