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Page 1
Extent, pattern, and prognostic value of MGMT promotor methylation: does it differ between glioblastoma and IDH-wildtype/TERT-mutated astrocytoma?
Teske N, Karschnia P, Weller J, Siller S, Dorostkar MM, Herms J, von Baumgarten L, Tonn JC, Thon N. Teske N, et al. J Neurooncol. 2022 Jan;156(2):317-327. doi: 10.1007/s11060-021-03912-6. Epub 2021 Dec 13. J Neurooncol. 2022. PMID: 34902093 Free PMC article.
MGMT promotor methylation was analysed using methylation-specific PCR and Sanger sequencing of CpG sites within the MGMT promotor region. RESULTS: We identified 224 patients with glioblastoma diagnosed based on histopathology, and 54 patients with IDHwt astrocytoma with pT …
MGMT promotor methylation was analysed using methylation-specific PCR and Sanger sequencing of CpG sites within the MGMT promotor reg …
Extent and prognostic value of MGMT promotor methylation in glioma WHO grade II.
Karschnia P, Teske N, Dorostkar MM, Siller S, Weller J, Baehring JM, Dietrich J, von Baumgarten L, Herms J, Tonn JC, Thon N. Karschnia P, et al. Sci Rep. 2020 Nov 12;10(1):19758. doi: 10.1038/s41598-020-76312-x. Sci Rep. 2020. PMID: 33184319 Free PMC article.
First, all 155 patients were assigned to three molecular groups according to the 2016 WHO classification system: (1) oligodendroglioma, IDH-mutant and 1p19q co-deleted (n = 81); (2) astrocytoma, IDH-mutant and 1p19q non-codeleted (n = 54); (3) astrocytoma, IDH-wildtype (n = 20). …
First, all 155 patients were assigned to three molecular groups according to the 2016 WHO classification system: (1) oligodendroglioma, IDH- …
New Aspects of the Virus Life Cycle and Clinical Utility of Next Generation Sequencing based HIV-1 Resistance Testing in the Genomic, the Proviral, and the Viral Reservoir of Peripheral Blood Mononuclear Cells.
Pröll J, Paar C, Taylor N, Skocic M, Freystetter A, Blaimschein A, Mayr R, Niklas N, Atzmüller S, Raml E, Wechselberger C. Pröll J, et al. Curr HIV Res. 2022;20(3):213-221. doi: 10.2174/1570162X20666220324111418. Curr HIV Res. 2022. PMID: 35331114
RESULTS: A total of 2476 variants or drug resistance mutations (DRMs) were detected with Sanger sequencing, compared with 2892 variants with NGS. An average of 822/1008 variants were identified in plasma viral RNA by Sanger or NGS sequencing, 834/956 in cellular vir …
RESULTS: A total of 2476 variants or drug resistance mutations (DRMs) were detected with Sanger sequencing, compared with 2892 varian …
Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.
Zulfiqar S, Tariq M, Ramzan S, Khan A, Sher M, Ali Z, Dahl N, Abdullah U, Mahmood Baig S. Zulfiqar S, et al. J Clin Neurosci. 2021 Dec;94:8-12. doi: 10.1016/j.jocn.2021.09.027. Epub 2021 Sep 30. J Clin Neurosci. 2021. PMID: 34863467
Whole exome sequencing was performed to identify mutation in affected individuals. Variants were filtered and further validated by Sanger sequencing and segregation analysis. A novel frameshift variant c.1601dupT leading to p.Ala535GlyfsTer17) was identified in GPR56 gene …
Whole exome sequencing was performed to identify mutation in affected individuals. Variants were filtered and further validated by Sanger …
Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing.
Fischer C, Scheipl S, Zopf A, Niklas N, Deutsch A, Jorgensen M, Lohberger B, Froehlich EV, Leithner A, Gabriel C, Liegl-Atzwanger B, Rinner B. Fischer C, et al. J Cancer. 2015 Aug 20;6(10):984-9. doi: 10.7150/jca.11371. eCollection 2015. J Cancer. 2015. PMID: 26366211 Free PMC article.
We performed an ultra-deep sequencing analysis to find novel mutations in cancer associated genes in chordomas to date unseen with Sanger sequencing. MATERIAL AND METHODS: Nine chordomas (skull base (n=3), mobile spine (n=4), and sacrum/coccyx (n=2) were screened for mutat …
We performed an ultra-deep sequencing analysis to find novel mutations in cancer associated genes in chordomas to date unseen with Sanger …
Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Kastner R, Zopf A, Preuner S, Pröll J, Niklas N, Foskett P, Valent P, Lion T, Gabriel C. Kastner R, et al. Eur J Cancer. 2014 Mar;50(4):793-800. doi: 10.1016/j.ejca.2013.11.030. Epub 2013 Dec 20. Eur J Cancer. 2014. PMID: 24365090 Free PMC article.
Polymerase chain reaction (PCR) amplicons of the BCR-ABL1 TKD derived from individual specimens were subcloned into pGEM-T plasmids, and >100 individual clones were subjected to analysis by Sanger sequencing. The NGS results were confirmed, thus documenting the reliabil …
Polymerase chain reaction (PCR) amplicons of the BCR-ABL1 TKD derived from individual specimens were subcloned into pGEM-T plasmids, and > …
Introduction of the hybcell-based compact sequencing technology and comparison to state-of-the-art methodologies for KRAS mutation detection.
Zopf A, Raim R, Danzer M, Niklas N, Spilka R, Pröll J, Gabriel C, Nechansky A, Roucka M. Zopf A, et al. Biotechniques. 2015 Mar 1;58(3):126-34. doi: 10.2144/000114264. eCollection 2015 Mar. Biotechniques. 2015. PMID: 25757545 Free article.
A total of 32 mutations and 10 wild-type cases were reported using 454-NGS as the reference method. Specificity ranged from 100% for Sanger sequencing to 80% for pyrosequencing. Sanger sequencing and hybcell-based compact sequencing achieved a sensitivity of 96%, wh …
A total of 32 mutations and 10 wild-type cases were reported using 454-NGS as the reference method. Specificity ranged from 100% for Sang …
Overcoming methodical limits of standard RHD genotyping by next-generation sequencing.
Stabentheiner S, Danzer M, Niklas N, Atzmüller S, Pröll J, Hackl C, Polin H, Hofer K, Gabriel C. Stabentheiner S, et al. Vox Sang. 2011 May;100(4):381-8. doi: 10.1111/j.1423-0410.2010.01444.x. Epub 2010 Dec 7. Vox Sang. 2011. PMID: 21133932
Sequence-based typing is the gold standard to determine rare and unknown RHD genotypes. For this pilot study, sequence-based typing by standard Sanger sequencing was compared to a newly established next-generation sequencing approach based on pyrosequencing. ...Parallel se …
Sequence-based typing is the gold standard to determine rare and unknown RHD genotypes. For this pilot study, sequence-based typing by stand …
Sequence capture and next generation resequencing of the MHC region highlights potential transplantation determinants in HLA identical haematopoietic stem cell transplantation.
Pröll J, Danzer M, Stabentheiner S, Niklas N, Hackl C, Hofer K, Atzmüller S, Hufnagl P, Gülly C, Hauser H, Krieger O, Gabriel C. Pröll J, et al. DNA Res. 2011 Aug;18(4):201-10. doi: 10.1093/dnares/dsr008. Epub 2011 May 28. DNA Res. 2011. PMID: 21622977 Free PMC article.
In haematopoietic stem cell transplantation, on the basis of fully human leukocyte antigen (HLA)-matched donor-recipient pairs, adverse effects like graft versus leukaemia and graft versus host are observed and difficult to handle. So far, high-resolution HLA typing was performed …
In haematopoietic stem cell transplantation, on the basis of fully human leukocyte antigen (HLA)-matched donor-recipient pairs, adverse effe …
Human immunodeficiency virus type 1 drug resistance testing: Evaluation of a new ultra-deep sequencing-based protocol and comparison with the TRUGENE HIV-1 Genotyping Kit.
Stelzl E, Pröll J, Bizon B, Niklas N, Danzer M, Hackl C, Stabentheiner S, Gabriel C, Kessler HH. Stelzl E, et al. J Virol Methods. 2011 Dec;178(1-2):94-7. doi: 10.1016/j.jviromet.2011.08.020. Epub 2011 Aug 27. J Virol Methods. 2011. PMID: 21907239
Genotypic HIV-1 drug resistance testing with standard Sanger sequencing is limited to the detection of mutations with >20% prevalence. ...With ultra-deep sequencing, total time to result was four times longer in comparison to standard Sanger sequencing. Manual wo …
Genotypic HIV-1 drug resistance testing with standard Sanger sequencing is limited to the detection of mutations with >20% prevale …