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Showing 1 to 9 of 9 entries
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing.

Journal of visualized experiments : JoVE

Lv X, Zhao M, Yi Y, Zhang L, Guan Y, Liu T, Yang L, Chen R, Ma J, Yi X.
PMID: 28872127
J Vis Exp. 2017 Aug 24;(126). doi: 10.3791/56342.

The analysis of circulating tumor DNA (ctDNA) using next-generation sequencing (NGS) has become a valuable tool for the development of clinical oncology. However, the application of this method is challenging due to its low sensitivity in analyzing the trace...

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Lv X, Zhao M, Yi Y, et al. Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. J Vis Exp. 2017;(126)doi: 10.3791/56342.
Lv, X., Zhao, M., Yi, Y., Zhang, L., Guan, Y., Liu, T., Yang, L., Chen, R., Ma, J., & Yi, X. (2017). Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. Journal of visualized experiments : JoVE, (126), . https://doi.org/10.3791/56342
Lv, Xiaoxing, et al. "Detection of Rare Mutations in CtDNA Using Next Generation Sequencing." Journal of visualized experiments : JoVE vol. ,126 (2017). doi: https://doi.org/10.3791/56342
Lv X, Zhao M, Yi Y, Zhang L, Guan Y, Liu T, Yang L, Chen R, Ma J, Yi X. Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. J Vis Exp. 2017 Aug 24;(126). doi: 10.3791/56342. PMID: 28872127; PMCID: PMC5614374.
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[Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer].

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru

Dominguez MV, Bastos EP, Silva SD, Rossi BM.
PMID: 19898597
Rev Gastroenterol Peru. 2009 Jul-Sep;29(3):247-53.

Colorectal cancer (CRC) is one of the main causes of death in South American countries. The hereditary forms of CRC are, familial adenomatous (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome (LS), which is the most common...

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Dominguez MV, Bastos EP, Silva SD, et al. Metodos de investigacion molecular en la deteccion de mutaciones germinativas en cancer colorrectal hereditario. [Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]. Rev Gastroenterol Peru. 2009;29(3):247-53
Dominguez, M. V., Bastos, E. P., Silva, S. D., & Rossi, B. M. (2009). Metodos de investigacion molecular en la deteccion de mutaciones germinativas en cancer colorrectal hereditario. [Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]. Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru, 29(3), 247-53.
Dominguez, M V, et al. "Metodos de investigacion molecular en la deteccion de mutaciones germinativas en cancer colorrectal hereditario." [Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]. Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru vol. 29,3 (2009): 247-53.
Dominguez MV, Bastos EP, Silva SD, Rossi BM. Metodos de investigacion molecular en la deteccion de mutaciones germinativas en cancer colorrectal hereditario. [Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]. Rev Gastroenterol Peru. 2009 Jul-Sep;29(3):247-53. Spanish. PMID: 19898597.
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Slowly but surely towards better scanning for mutations.

Trends in genetics : TIG

Cotton RG.
PMID: 9055601
Trends Genet. 1997 Feb;13(2):43-6. doi: 10.1016/s0168-9525(97)01011-1.

No abstract available.

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Cotton RG. Slowly but surely towards better scanning for mutations. Trends Genet. 1997;13(2):43-6doi: 10.1016/s0168-9525(97)01011-1.
Cotton, R. G. (1997). Slowly but surely towards better scanning for mutations. Trends in genetics : TIG, 13(2), 43-6. https://doi.org/10.1016/s0168-9525(97)01011-1
Cotton, R G. "Slowly but surely towards better scanning for mutations." Trends in genetics : TIG vol. 13,2 (1997): 43-6. doi: https://doi.org/10.1016/s0168-9525(97)01011-1
Cotton RG. Slowly but surely towards better scanning for mutations. Trends Genet. 1997 Feb;13(2):43-6. doi: 10.1016/s0168-9525(97)01011-1. PMID: 9055601.
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Label-free efficient and accurate detection of cystic fibrosis causing mutations using an azimuthally rotated GC-SPR platform.

Analytical chemistry

Meneghello A, Antognoli A, Sonato A, Zacco G, Ruffato G, Cretaio E, Romanato F.
PMID: 25359284
Anal Chem. 2014 Dec 02;86(23):11773-81. doi: 10.1021/ac503272y. Epub 2014 Nov 14.

Plasmonic nanosensors are candidates for the development of new sensors with low detection limits, high sensitivity, and specificity for target detection: these characteristics are of critical importance in the screening of mutations responsible for inherited diseases. In this work,...

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Meneghello A, Antognoli A, Sonato A, et al. Label-free efficient and accurate detection of cystic fibrosis causing mutations using an azimuthally rotated GC-SPR platform. Anal Chem. 2014;86(23):11773-81doi: 10.1021/ac503272y.
Meneghello, A., Antognoli, A., Sonato, A., Zacco, G., Ruffato, G., Cretaio, E., & Romanato, F. (2014). Label-free efficient and accurate detection of cystic fibrosis causing mutations using an azimuthally rotated GC-SPR platform. Analytical chemistry, 86(23), 11773-81. https://doi.org/10.1021/ac503272y
Meneghello, Anna, et al. "Label-free efficient and accurate detection of cystic fibrosis causing mutations using an azimuthally rotated GC-SPR platform." Analytical chemistry vol. 86,23 (2014): 11773-81. doi: https://doi.org/10.1021/ac503272y
Meneghello A, Antognoli A, Sonato A, Zacco G, Ruffato G, Cretaio E, Romanato F. Label-free efficient and accurate detection of cystic fibrosis causing mutations using an azimuthally rotated GC-SPR platform. Anal Chem. 2014 Dec 02;86(23):11773-81. doi: 10.1021/ac503272y. Epub 2014 Nov 14. PMID: 25359284.
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GAMES identifies and annotates mutations in next-generation sequencing projects.

Bioinformatics (Oxford, England)

Sana ME, Iascone M, Marchetti D, Palatini J, Galasso M, Volinia S.
PMID: 20971986
Bioinformatics. 2011 Jan 01;27(1):9-13. doi: 10.1093/bioinformatics/btq603. Epub 2010 Oct 22.

MOTIVATION: Next-generation sequencing (NGS) methods have the potential for changing the landscape of biomedical science, but at the same time pose several problems in analysis and interpretation. Currently, there are many commercial and public software packages that analyze NGS...

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Sana ME, Iascone M, Marchetti D, et al. GAMES identifies and annotates mutations in next-generation sequencing projects. Bioinformatics. 2010;27(1):9-13doi: 10.1093/bioinformatics/btq603.
Sana, M. E., Iascone, M., Marchetti, D., Palatini, J., Galasso, M., & Volinia, S. (2011). GAMES identifies and annotates mutations in next-generation sequencing projects. Bioinformatics (Oxford, England), 27(1), 9-13. https://doi.org/10.1093/bioinformatics/btq603
Sana, Maria Elena, et al. "GAMES identifies and annotates mutations in next-generation sequencing projects." Bioinformatics (Oxford, England) vol. 27,1 (2011): 9-13. doi: https://doi.org/10.1093/bioinformatics/btq603
Sana ME, Iascone M, Marchetti D, Palatini J, Galasso M, Volinia S. GAMES identifies and annotates mutations in next-generation sequencing projects. Bioinformatics. 2011 Jan 01;27(1):9-13. doi: 10.1093/bioinformatics/btq603. Epub 2010 Oct 22. PMID: 20971986.
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Cystic fibrosis mutation analysis: how many is enough?.

Genetics in medicine : official journal of the American College of Medical Genetics

Tsongalis GJ, Belloni DR, Grody WW.
PMID: 15371913
Genet Med. 2004 Sep-Oct;6(5):456-8.

No abstract available.

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Tsongalis GJ, Belloni DR, Grody WW. Cystic fibrosis mutation analysis: how many is enough?. Genet Med. 2004;6(5):456-8
Tsongalis, G. J., Belloni, D. R., & Grody, W. W. (2004). Cystic fibrosis mutation analysis: how many is enough?. Genetics in medicine : official journal of the American College of Medical Genetics, 6(5), 456-8.
Tsongalis, Gregory J, et al. "Cystic fibrosis mutation analysis: how many is enough?." Genetics in medicine : official journal of the American College of Medical Genetics vol. 6,5 (2004): 456-8.
Tsongalis GJ, Belloni DR, Grody WW. Cystic fibrosis mutation analysis: how many is enough?. Genet Med. 2004 Sep-Oct;6(5):456-8. PMID: 15371913.
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MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis.

Genome biology

Jia P, Wang Q, Chen Q, Hutchinson KE, Pao W, Zhao Z.
PMID: 25348067
Genome Biol. 2014;15(10):489. doi: 10.1186/s13059-014-0489-9.

Many cancer genes form mutation hotspots that disrupt their functional domains or active sites, leading to gain- or loss-of-function. We propose a mutation set enrichment analysis (MSEA) implemented by two novel methods,MSEA-clust and MSEA-domain, to predict cancer genes based...

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Jia P, Wang Q, Chen Q, et al. MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis. Genome Biol. 2014;15(10):489doi: 10.1186/s13059-014-0489-9.
Jia, P., Wang, Q., Chen, Q., Hutchinson, K. E., Pao, W., & Zhao, Z. (2014). MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis. Genome biology, 15(10), 489. https://doi.org/10.1186/s13059-014-0489-9
Jia, Peilin, et al. "MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis." Genome biology vol. 15,10 (2014): 489. doi: https://doi.org/10.1186/s13059-014-0489-9
Jia P, Wang Q, Chen Q, Hutchinson KE, Pao W, Zhao Z. MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis. Genome Biol. 2014;15(10):489. doi: 10.1186/s13059-014-0489-9. PMID: 25348067; PMCID: PMC4226881.
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Not all sequence tags are created equal: designing and validating sequence identification tags robust to indels.

PloS one

Faircloth BC, Glenn TC.
PMID: 22900027
PLoS One. 2012;7(8):e42543. doi: 10.1371/journal.pone.0042543. Epub 2012 Aug 10.

Ligating adapters with unique synthetic oligonucleotide sequences (sequence tags) onto individual DNA samples before massively parallel sequencing is a popular and efficient way to obtain sequence data from many individual samples. Tag sequences should be numerous and sufficiently different...

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Faircloth BC, Glenn TC. Not all sequence tags are created equal: designing and validating sequence identification tags robust to indels. PLoS One. 2012;7(8):e42543doi: 10.1371/journal.pone.0042543.
Faircloth, B. C., & Glenn, T. C. (2012). Not all sequence tags are created equal: designing and validating sequence identification tags robust to indels. PloS one, 7(8), e42543. https://doi.org/10.1371/journal.pone.0042543
Faircloth, Brant C, and Glenn, Travis C. "Not all sequence tags are created equal: designing and validating sequence identification tags robust to indels." PloS one vol. 7,8 (2012): e42543. doi: https://doi.org/10.1371/journal.pone.0042543
Faircloth BC, Glenn TC. Not all sequence tags are created equal: designing and validating sequence identification tags robust to indels. PLoS One. 2012;7(8):e42543. doi: 10.1371/journal.pone.0042543. Epub 2012 Aug 10. PMID: 22900027; PMCID: PMC3416851.
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Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis.

The journal of allergy and clinical immunology. In practice

Weiler CR, Akin C.
PMID: 33039016
J Allergy Clin Immunol Pract. 2020 Oct;8(9):3128-3129. doi: 10.1016/j.jaip.2020.06.030.

No abstract available.

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Weiler CR, Akin C. Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis. J Allergy Clin Immunol Pract. 2020;8(9):3128-3129doi: 10.1016/j.jaip.2020.06.030.
Weiler, C. R., & Akin, C. (2020). Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis. The journal of allergy and clinical immunology. In practice, 8(9), 3128-3129. https://doi.org/10.1016/j.jaip.2020.06.030
Weiler, Catherine R, and Akin, Cem. "Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis." The journal of allergy and clinical immunology. In practice vol. 8,9 (2020): 3128-3129. doi: https://doi.org/10.1016/j.jaip.2020.06.030
Weiler CR, Akin C. Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis. J Allergy Clin Immunol Pract. 2020 Oct;8(9):3128-3129. doi: 10.1016/j.jaip.2020.06.030. PMID: 33039016.
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Showing 1 to 9 of 9 entries