Application Notes: Posters

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

In order to maximize Illumina next generation sequencing (NGS) runs, the loading concentration of NGS libraries must be carefully controlled. Both over- and under-loading will decrease the amount of usable reads by limiting the number of sequenceable clusters. Library quantification using digital PCR (dPCR) is commonly used for accurate concentration determinations of complete and sequenceable library fragments. Download the poster to read more about a study conducted between the Combinati Absolute Q®  and the BioRad QX200 to perform NGS library quantification across libraries with a range of fragment lengths. 

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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).

Digital PCR has exceptional sensitivity for detecting rare targets, making it ideal for detection of mutations linked to drug resistance. However, standard TaqMan-based assays rely upon competitive probe dynamics to maintain SNP-target specificity in mixed samples.  This poster highlights the melt-capable Combinati Absolute Q digital PCR system to facilitate higher-order multiplexing to  quantify more alleles in less time using less input sample required to achieve the same results by other assay methods.

Here we showcase 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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