Kathleen C. Hayashibara

TL;DR: Dozens of mutations previously described in OMIM and hundreds of nonsynonymous single-nucleotide and structural variants in genes previously implicated in disease are identified in this individual.

TL;DR: The principle and applications of the SNPlex Genotyping System are described, as well as a set of single nucleotide polymorphism selection tools and validated assay resources that accelerate the assay design process.

TL;DR: In this article , the presence and fraction of reads supporting mutations specific to either the Delta or Omicron variants of SARS-CoV-2 was analyzed and the authors identified 18 co-infections, one of which displayed evidence of a low Delta-Omicron recombinant virus population.

TL;DR: A method of using a standard to correct for variability in sample handling, which can include adding a template of known concentration to an assay comprising a sample, preamplifying the assay, amplifying the assays, collecting data during the amplifying, and correcting the data using a comparison of data collected from the template to the sample as mentioned in this paper.

TL;DR: A customizable reverse transcription PCR (RT-PCR)-based genotyping approach which is significantly less expensive, accelerates reporting, and can be implemented in any lab that performs RT- PCR is described.