Application Notes: Posters

Determining the Effects of Fragment Length on Digital PCR Dynamic Range and Optimizing Library Quantification

In order to maximize Illumina sequencing runs, the loading concentration of libraries must be carefully controlled. Both over- and under-loading will decrease the amount of usable reads by limiting the number of sequenceable clusters. One method to accurately load libraries is to use quantification with digital PCR (dPCR). dPCR provides absolute quantification, but like qPCR based methods, can be biased by libraries with extreme size distributions. Both the BioRad QX200 and the Combinati Absolute Q® were able to quantify multiple sizes of libraries, but encountered issues with an 1000 base pair sized library.

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4-color Multiplexing Digital PCR Assay for Non-Invasive Prenatal Trisomy (NIPT) Testing Using a Novel Digital PCR Platform

AACC Poster: 4-color Multiplexing Digital PCR Assay for Non-Invasive Prenatal Trisomy (NIPT) Testing Using a Novel Digital PCR Platform

Trisomies are the most common fetal aneuploidies with abnormalities in chromosomes 13 (Patau syndrome T13), 18 (Edwards syndrome T18) or 21 (Down syndrome T21). With the discovery of fetal cell-free DNA (cfDNA) and improvements in modern digital PCR technologies, digital PCR has the potential to become an inexpensive and accurate method for trisomy Non-Invasive Prenatal Testing (NIPT) as the standard of care1-2. In this study, we report the first 4-color multiplexing NIPT trisomy test on a novel digital PCR (dPCR) platform to simultaneously detect chromosomes 13, 18, and 21 while using chromosome 1 as the internal reference control.

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Discriminatory 11-Plex Assay Designed to Monitor Estrogen Receptor Mutations Using a Novel, Melt-Analysis Capable Digital PCR Platform​

Discriminatory 11-Plex Assay Designed to Monitor Estrogen Receptor Mutations Using a Novel, Melt-Analysis Capable Digital PCR Platform​

In a large fraction of ER+/HER2- metastatic breast cancer (MBC), treatment with aromatase inhibitors fails due to emerging resistance. A key mechanism of this resistance is associated with a set of missense mutations in the gene encoding for the estrogen receptor (ESR1). We have developed a multiplex, quantitative, Research Use Only assay for the detection and identification of 11 ESR1 single nucleotide polymorphisms (SNPs) and the ESR1 gene in a single reaction, using patented, melt-based chemistry and an innovative digital PCR (dPCR) system.

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