Skip to main content
Premium Trial:

Request an Annual Quote

eCase Study Videos

Identification of Putative Functional Variants in Claudin-Low Breast Cancer Cell Lines

Video

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

Protecting Data Integrity and Quality Assurance in Times of Crisis: Technologies Essential to SARS-CoV-2 Sequencing

Video

Clinical Reference Laboratory (CRL) is one of the largest privately held clinical testing laboratories in the US. As the COVID pandemic arose last year, the lab sought to develop a patient-friendly sample collection experience based on saliva instead of nasal pharyngeal swabs. But the test needed to be just as accurate and reliable as standard SARS-CoV-2 tests.

In this on-demand eCase study, Heather Fehling and Rob Grbac of CRL review how they quickly developed a PCR-based COVID-19 saliva test and then rapidly scaled from 300 samples per day to 30,000 samples per day. They discuss how they optimized their processes with the help of Artel’s Multichannel Verification System and review lessons learned from the project.

Download the transcript that accompanies this eCase Study here.

Optimized Protocol for Sequencing the SARS-CoV-2 Genome

Video

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

Download the companion Application Note here.

Download a Transcript of this eCase Study here.

The challenge of sequencing SMN1/2 genes for spinal muscular atrophy research

Video

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.

Download a Transcript of this eCase Study here.

Independent Evaluation of Reproseq PGS

Video

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.

Download the transcript of this eCase Study here.

The Challenge of Sequencing HBA1/2 Genes for Alpha Thalassemia Research

Video

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.

Download the transcript of this eCase Study here.

Expert Advice Establishing a SARS-CoV-2 Assay for COVID-19

Video

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.

Download the transcript to this eCase Study here.

Rapid Implementation of SARS-CoV-2 Testing

Video

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.

Download the transcript to this eCase Study here.

Experience with SARS-CoV-2 (COVID-19) Assay Validation

Video

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.

Download the transcript to this eCase Study here.

Genomics Clinical Implementation Success Stories: Development of a Robust Clinical NGS Quality Management System

Video
In this on-demand video presentation,?Dr. Keith Gligorich, laboratory operations director at Navican Precision Cancer Care, discusses his?experiences implementing a next-generation sequencing quality management system at Navican.??Download the video to hear Dr. Gligorich explain the details of Navican's NGS quality management system and how it addresses the complexities of the precision medicine workflow.???Download the companion white paper to this eCase study video.??
123