Search

Background: Next‐generation sequencing (NGS) technology enables sample multiplexing for interrogation of multiple regions of interest (ROI). Leveraging this, together with access to affordable NGS platforms, we explored the practicality of moving capillary electrophoresis (CE), noncapillary electrophoresis and single‐gene testing to NGS. In this work, we evaluated the iSeq 100's capacity to validate 89 samples at once. Methods: Genomic DNA was extracted from 89 archival samples of varying specimen types. Polymerase chain reaction (PCR) was done with in house primers, library preparation with the Nextera XT Library Preparation Kit and cleaning up with paramagnetic beads. The sequencing was performed on one Illumina iSeq 100 flow cell. Results: With our workflow, 88 out of 89 samples were accurately sequenced with variant alleles identified. One sample of the 88 samples was initially discordant because the primers used were in a heterozygous deletion region. Upon redesigning of primers, the sample proved concordant. Conclusions: The iSeq‐Nextera workflow proved accurate. However, variant allele frequencys generated by the Nextera are not precise. [ABSTRACT FROM AUTHOR]

This article discusses the discovery of a novel variant of the thiopurine S-methyltransferase (TPMT) gene in a Malay individual. The TPMT gene is important for the metabolism of thiopurine drugs used in the treatment of various conditions. The variant, which involves an in-frame deletion and insertion event, was found to be specific to the Malay population and was not present in major genomic databases. The study highlights the importance of genetic testing in optimizing drug therapy and calls for further investigation into the variant's clinical implications. [Extracted from the article]

Keywords: cobas; coronavirus; COVID-19; GeneXpert; pandemic; SARS-CoV-2 EN cobas coronavirus COVID-19 GeneXpert pandemic SARS-CoV-2 e45 e48 4 01/21/21 20210201 NES 210201 To the Editor, The World Health Organization (WHO) has declared the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak to be a global pandemic. A total of 11 discordant samples were noted where 10 were detected by the Xpert assay only (median I E i gene CT: 38.50 [IQR 38.03-39.38]; median I N i gene CT: 40.60 [IQR 39.20-41.60]) and one was detected by the cobas assay only ( I E i gene CT: 38.66; ORF1ab CT: not detected). After retesting the 11 discordant samples using the TaqPath assay, six of the 10 Xpert-only positive samples (median I E i gene CT: 38.40 [IQR 37.20-38.60]; median I N i gene CT: 39.50 [IQR: 38.45-40.40]) agreed with the TaqPath results and were deemed as positives based on consensus. [Extracted from the article]

The article presents a case study of 46‐year‐old Chinese woman with no significant past medical history was admitted in 2005 for viral gastroenteritis. Topics include completing blood count during this admission has revealed hemoglobin, and the JAK2 are common in myeloproliferative neoplasms (MPN), the most common being the activating missense mutation V617F within the pseudokinase (JH2) domain, which has been described in fifty percent of essential thrombocytosis (ET) cases.