Development and validation of a custom panel including 183 Y‐SNPs for Chinese Y‐chromosomal haplogroups dissection using a MALDI‐TOF MS system

2020 ◽  
Vol 41 (23) ◽  
pp. 2047-2054
Author(s):  
Min Li ◽  
Yilun Zhang ◽  
Li Luo ◽  
Yingnan Bian ◽  
Chengtao Li
2020 ◽  
Vol 6 (2) ◽  
pp. 72 ◽  
Author(s):  
Andrés Ceballos-Garzon ◽  
Daniela Amado ◽  
Norida Vélez ◽  
María José Jiménez-A ◽  
Crescencio Rodríguez ◽  
...  

Background: Candida auris is characterized for having a high genetic variability among species. MALDI-TOF MS library contains spectra from only three strains of C. auris, which makes difficult the identification process and gives low scores at the species level. Our aim was to construct and validate an internal library to improve C. auris identification with Colombian clinical strains. Methods: From 30 clinical strains, 770 mass spectra were obtained for the construction of the database. The validation was performed with 300 strains to compare the identification results in the BDAL and C. auris Colombia libraries. Results: Our library allowed a complete, 100% identification of the evaluated strains and a significant improvement in the scores obtained, showing a better performance compared to the Bruker BDAL library. Conclusions: The strengthening of the database is a great opportunity to improve the scoring and C. auris identification. Library data are available via ProteomeXchange with identifier PXD016387.


2020 ◽  
Vol 5 (3) ◽  
pp. 454-466
Author(s):  
Grace R Williams ◽  
Leanne Cook ◽  
Lionel D Lewis ◽  
Gregory J Tsongalis ◽  
Robert D Nerenz

Abstract Background Laboratorians have the opportunity to help minimize the frequency of adverse drug reactions by implementing pharmacogenomic testing and alerting care providers to possible patient/drug incompatibilities before drug treatment is initiated. Methods combining PCR with MALDI-ToF MS have allowed for sensitive, economical, and multiplexed pharmacogenomic testing results to be delivered in a timely fashion. Method This study evaluated the analytical performance of the Agena Biosciences iPLEX® PGx 74 panel and a custom iPLEX panel on a MassARRAY MALDI-TOF MS instrument in a clinical laboratory setting. Collectively, these panels evaluate 112 SNVs across 34 genes implicated in drug response. Using commercially available samples (Coriell Biorepository) and in-house extracted DNA, we determined ideal reaction conditions and assessed accuracy, precision, and robustness. Results Following protocol optimization, the Agena PGx74 and custom panels demonstrated 100% concordance with the 1000 Genomes Project Database and clinically validated hydrolysis probe genotyping assays. 100% concordance was also observed in all assessments of assay precision when appropriate QC metrics were applied. Conclusions Significant development time was required to optimize sample preparation and instrumental analysis and 3 assays were removed due to inconsistent performance. Following modification of the manufacturer’s protocol and instituting manual review of each assay plate, the Agena PGx74 and custom panel constitute a cost-effective, robust, and accurate method for clinical identification of 106 SNVs involved in drug response.


2018 ◽  
Vol 57 (2) ◽  
pp. 215-225 ◽  
Author(s):  
Constanza Giselle Taverna ◽  
Mariana Mazza ◽  
Nadia Soledad Bueno ◽  
Christian Alvarez ◽  
Susana Amigot ◽  
...  

2011 ◽  
Vol 5 (S8) ◽  
Author(s):  
Guido Vogel ◽  
André Strauss ◽  
Bernard Jenni ◽  
Dominik Ziegler ◽  
Eric Dumermuth ◽  
...  

2007 ◽  
Vol 177 (4S) ◽  
pp. 297-297
Author(s):  
Kristina Schwamborn ◽  
Rene Krieg ◽  
Ruth Knüchel-Clarke ◽  
Joachim Grosse ◽  
Gerhard Jakse

Planta Medica ◽  
2016 ◽  
Vol 81 (S 01) ◽  
pp. S1-S381
Author(s):  
L Fougère ◽  
D Da Silva ◽  
E Destandau ◽  
C Elfakir
Keyword(s):  

2017 ◽  
Author(s):  
M Erhard ◽  
M Metzner ◽  
D Köhler-Repp ◽  
B Köhler ◽  
R Storandt
Keyword(s):  

2019 ◽  
Author(s):  
M Hooshyari ◽  
H Rezadoost ◽  
P Ghezellou ◽  
A Ghassempour

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