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eCase Study Videos

Displaying 1 - 9 of 9
October 08, 2020
Sponsored by
Thermo Fisher Scientific

Optimized Protocol for Sequencing the SARS-CoV-2 Genome

Case Study

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.

Sponsored by
August 07, 2020
Sponsored by
Thermo Fisher Scientific

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

Case Study

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.

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June 23, 2020
Sponsored by
Thermo Fisher Scientific

Independent Evaluation of Reproseq PGS

Case Study

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. Mr. Goodman presents his findings in a head to head study performed with Ion Torrent™ ReproSeq™ Assay compared to Illumina™ Veriseq™ Assay. He will discuss the high-resolution sequencing accuracy, data interpretation, and cost effectiveness of the ReproSeq Assay.

Download the transcript of this eCase Study here.

Sponsored by
June 16, 2020
Sponsored by
Thermo Fisher Scientific

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

Case Study

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.

Sponsored by
May 28, 2020
Sponsored by
Seven Bridges

Tools and Workflows Optimized for Processing Single-Cell Data

Case Study

With the cost of sequencing a whole human genome dropping to $1,000, the size, complexity, and locations of datasets has expanded dramatically. This expansion has been particularly prominent in the field of single-cell genomics, where just one sample is often composed of thousands of whole transcriptomes.

This brief on-demand eCase study video outlines new tools to identify patterns in populations of individual cells and explains how adapting these new analysis methods to cloud computing environments addresses challenges in the size, complexity and location of the datasets.

Download the transcript to this eCase Study here.

Sponsored by
April 14, 2020
Sponsored by
SeraCare

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

Case Study

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.

Sponsored by
April 14, 2020
Sponsored by
SeraCare

Rapid Implementation of SARS-CoV-2 Testing

Case Study

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.

Sponsored by
Case Study

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.

Sponsored by
Case Study
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.  
 
 
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The UK is investing £33.6 million into a controversial human SARS-CoV-2 challenge study, according to Reuters.

The Guardian reports that the UK COVID genomics consortium is monitoring mutations that are arising within circulating SARS-CoV-2 strains for any that may affect future vaccines.

Science reports that Max Planck and Nature have struck a deal for affiliated authors to publish papers that are accessible to the public as well as access Nature-branded journals.

In PNAS this week: genomic analysis of ancient animals from Tibet, oncoproteins tied to WEE1 kinase enzyme inhibitor response, and more.