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Hoffman, J. J.

Publications and source records attributed to Hoffman, J. J..

2 recordsLinked to original sources

Telomere-to-telomere reference genome of the common five-lined skink, Plestiodon fasciatus (Squamata: Scincidae)

Although the publication of high-quality reference genomes is steadily increasing, many clades remain chronically neglected. Skinks (order: Squamata; family: Scincidae) are one of the most diverse lizard families (1,785 species), yet there are currently just six published chromosome-level skink genomes. Here, we present the first telomere-to-telomere, chromosome-level reference genome for one of the most abundant lizards in the eastern United States, the common five-lined skink (Plestiodon fasciatus). Through the sequencing of RNA, long-read DNA, and Hi-C chromatin interactions, we produced an annotated reference genome (N50 = 227MB, L50 = 3) consisting of 6 macrochromosome pairs and 7 microchromosome pairs with 98% of BUSCO genes represented (lineage: Sauropsida; 7480 BUSCO markers) represented, providing one of the most complete skink genomes to date: rPleFas1.1. Functional annotation predicts 32,520 protein-coding genes (16,100 unique, named genes) with an average gene length of 9,372bp. Repeat annotations estimate that transposable elements comprise 46.7% of the genome, for which we show the amount and content is remarkably conserved across Scincidae.

genomics↗

RT-qPCR DETECTION OF SARS-CoV-2 RNA FROM PATIENT NASOPHARYNGEAL SWAB USING QIAGEN RNEASY KITS OR DIRECTLY VIA OMISSION OF AN RNA EXTRACTION STEP

The ongoing COVID-19 pandemic has caused an unprecedented need for rapid diagnostic testing. The Centers for Disease Control and Prevention (CDC) and the World Health Organization (WHO) recommend a standard assay that includes an RNA extraction step from a nasopharyngeal (NP) swab followed by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) to detect the purified SARS-CoV-2 RNA. The current global shortage of RNA extraction kits has caused a severe bottleneck to COVID-19 testing. We hypothesized that SARS-CoV-2 RNA could be detected from NP samples via a direct RT-qPCR assay that omits the RNA extraction step altogether, and tested this hypothesis on a series of blinded clinical samples. The direct RT-qPCR approach correctly identified 92% of NP samples (n = 155) demonstrated to be positive for SARS-CoV-2 RNA by traditional clinical diagnostic RT-qPCR that included an RNA extraction. Thus, direct RT-qPCR could be a front-line approach to identify the substantial majority of COVID-19 patients, reserving a repeat test with RNA extraction for those individuals with high suspicion of infection but an initial negative result. This strategy would drastically ease supply chokepoints of COVID-19 testing and should be applicable throughout the world.

microbiology↗