eCase Study Videos
Identification of Putative Functional Variants in Claudin-Low Breast Cancer Cell Lines
Claudin-low breast cancer is a molecular subtype of breast cancer that is associated with poor survival. In this on-demand eCase Study video, Jim Hayes, a field application scientist at Qiagen, discusses an analysis workflow to search for putatively functional variants in claudin-low breast cancer cell lines by comparing them to luminal breast cancer cell lines.
The presentation outlines a filtering strategy to identify true, rare, homozygous variants in claudin-low cell lines for functional follow-up in the lab.
Download the trancript that accompanies this eCase Study here
Optimized Protocol for Sequencing the SARS-CoV-2 Genome
Strain identification and study of viral evolution is made more accurate by a workflow offered by Invitrogen for the study of SARS-CoV-2 and other viruses. The workflow is designed for flexibility to accommodate shifts in availability of components while providing strong viral coverage for sensitive SNP detection. In this eCase Study, Cris Kinross will give an overview of the workflow, demonstrate the coverage and variant detection achieved, and provide a link to the full optimized protocol
The challenge of sequencing SMN1/2 genes for spinal muscular atrophy research
The most severe forms of spinal muscular atrophy (SMA) are considered to be a leading genetic cause of infant mortality. As a result, SMA is a very important disorder for carrier screening research studies. SMN1 and SMN2 are very similar in sequence: the functional difference between the two is a single nucleotide change—from a cytosine to a thymine in exon 7. This homology presents special challenges for NGS technologies commonly used in expanded carrier screening research. In this eCase study, Dr. Harris presents case examples to illustrate how the Ion Torrent™ CarrierSeq™ ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.
Independent Evaluation of Reproseq PGS
Whether you are expecting or one day hope to be, genetic screening can help empower informed decisions about how to move forward in the future. The goal of PGT-A, as a science, is to identify those embryos with the greatest potential of resulting in healthy outcomes. This on-demand video presents the resulsts of a head-to-head study performed with the Ion Torrent ReproSeq Assay compared to the Illumina Veriseq Assay. It details the high-resolution sequencing accuracy, data interpretation, and cost effectiveness of the ReproSeq Assay.
The Challenge of Sequencing HBA1/2 Genes for Alpha Thalassemia Research
Affecting approximately 5 percent of the world’s population, alpha thalassemia is the most common monogenic inherited disorder. Located in tandem, the HBA1 and HBA2 genes have identical coding sequences and this homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.
In this presentation, Dr. Colin Davidson of Thermo Fisher Scientific presents case examples to illustrate how the Ion Torrent CarrierSeq ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.
Expert Advice Establishing a SARS-CoV-2 Assay for COVID-19
In this 15-minute on-demand presentation, learn how Accuplex SARS-CoV-2 Reference Materials are meeting the immediate need for validating the performance of coronavirus assays. The focus of this presentation is on the technology, the importance of early detection, and helping every lab accelerate go-live-launch.
Rapid Implementation of SARS-CoV-2 Testing
In this 15-minute, on-demand video, Dr. Joel Lefferts describes how his team at the Dartmouth-Hitchcock Medical Center were able to rapidly increase, through automation, their SARS-CoV-2 assay on the Abbott m2000. Dr. Lefferts provides practical experiences and challenges faced when developing, validating, and going live with a SARS-CoV-2 assay to facilitate patient testing.
Experience with SARS-CoV-2 (COVID-19) Assay Validation
In this 20-minute eCase Study you will hear first-hand how Dr. Jeff SoRelle and team, of the University of Texas Southwestern Medical Center, developed and validated a COVID-19 RT PCR assay. Dr. SoRelle shares his decision to bring this development in house, how he chose reference materials, and how he managed to scale up and provide rapid turnaround.