Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

How A New Generation of ctDNA Reference Standards Are Enabling the Promise of Precision Medicine

Posted by Omo Clement, Ph.D. on Jun 14, 2018 10:00:00 AM

An important goal in cancer disease management is early detection. When detected early, disease progression can be significantly mitigated with a plethora of options (targeted therapy, chemotherapy, surgery, etc.) available to medical practitioners, to afford progression free survival and a higher quality of life. A great promise of liquid biopsies is the possibility of early detection of cancer long before clear evidence of lesions and tumor growth observable by imaging or other techniques.1 As proxy for solid tissue biopsies, plasma-based liquid biopsy application is rapidly gaining traction in cancer disease diagnosis, progression, monitoring, and in predicting resistance to treatment options.2

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Topics: ctDNA, SeraSeq, NGS assays, liquid biopsy, ccfDNA, NGS reference materials, Clinical NGS Assays, Lung Cancer, colon cancer

FAQ: What to do when your NGS assay fails to detect a variant contained in Seraseq Reference Materials?

Posted by Catherine Huang on Jun 11, 2018 1:15:00 PM

Highly multiplexed reference materials are particularly valuable when developing and optimizing new NGS assays because they allow you to evaluate the performance of your assay across a large number of variants including different variant types (SNVs, indels, homopolymeric variants, etc.) and contexts. However, it can be frustrating when a variant in the reference material is not detected, or not detected at the expected variant allele frequency. Troubleshooting such issues can give new insight into the performance of the assay. Here we share some stories from Seraseq™ users where the lack of detection of one or more variants at the expected levels helped them improve their assay or set more appropriate QC thresholds.

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Topics: SeraSeq, NGS reference materials, Clinical NGS Assays

Sensitive ctDNA Assays are Required for Minimal Residual Cancer Detection

Posted by Russell Garlick on May 29, 2018 3:10:00 PM

The 11th International Symposium on Minimal Residual Cancer was held this month and much of the conference was devoted to new minimally invasive methods for circulating tumor cell enrichment and or the analysis of circulating tumor DNA. Today’s clinical needs are to measure disease burden, track mutations over time, or to detect early resistance and all of these applications require extremely sensitive, robust assays.

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Topics: ctDNA, SeraSeq, DNA

Twists and Turns That Lead From “Curiosity Driven Research” To Innovative Diagnostics

Posted by Catherine Huang on May 8, 2018 8:15:00 AM

Jennifer Doudna is not a cancer biologist and joked that she might deliver her entire lecture at the 2018 AACR Annual Meeting without ever mentioning the word “cancer.” However, when presenting the Irving Weinstein Foundation Distinguished Lecture, she told a fascinating story about how curiosity regarding an interesting sequence motif in bacteria led to gene-editing tools, and how investigation of the mechanisms behind those tools may lead to innovative diagnostics for the future.

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Topics: DNA, fusion RNA, aacr

Next-Generation QC Precision Metrics for Next-Generation Sequencing

Introducing the SeraCare Confidence Score, a comprehensive precision metric designed for NGS assays

Posted by Lorn Davis on Apr 16, 2018 4:00:00 PM

Introduction

There is an even greater onus to track quality control metrics for NGS assays because of the number of steps and elements that must successfully work together to produce consistent results. The Standards and Guidelines for Validating NGS Bioinformatics, published in January by AMP and CAP, highlight the importance of tracking QC metrics over time because “trends in these metrics can indicate an emerging issue with an NGS process that has not yet manifested itself in failed tests.”

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Topics: NGS assays, QC Challenges, NGS Management Software, QC Management Software, bioinformatics, Quality Management Systems, Clinical NGS Assays, qc management, confidence score, SeraCare Confidence Score

What Is The Difference Between Quality Control Software Like iQ NGS And LIMS?

Posted by Lorn Davis on Apr 6, 2018 8:00:00 AM

SeraCare Life Sciences, in partnership with GenomeWeb, recently offered this exciting on-demand webinar: 

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Topics: QC Challenges, assay performance, performance-based metrics, QC Management Software, Clinical NGS Assays, qc management

Developing a Rock-Solid Lung Cancer Assay

Posted by Yves Konigshofer on Mar 15, 2018 11:55:00 AM

Next-generation sequencing (NGS) allows deeper insights than ever before into the human genome and a host of diseases and conditions. So it makes sense that there is a worldwide movement to employ NGS in a growing number of applications. But as the saying goes, with great power comes great responsibility.



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Topics: NGS reference materials, Clinical NGS Assays, reference materials, Lung Cancer, standard operating procedures

An Efficient and Ultrasensitive NGS Solution for Profiling ctDNA [Poster Talk Video]

Posted by Trevor Brown on Mar 5, 2018 8:28:14 AM

SeraCare Customer Poster Talk Video with Data Presented by Asuragen

Next-generation sequencing (NGS) of liquid biopsies offers a minimally invasive alternative to solid tissue biopsies and a more holistic profile of intra- and inter-tumoral heterogeneity for therapy selection and disease monitoring. 

Watch the video and download this free poster to learn:
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Topics: ctDNA, NGS assays, liquid biopsy, next gen sequencing, NGS reference materials

CNVs and Tumor Profiling: New CNV Materials for Breast, Lung, and Brain Cancer

Posted by Dana Ruminski Lowe, Ph.D. on Feb 14, 2018 4:00:00 PM

Simply described, copy number variations (CNVs) are DNA segments present at a variable copy number in comparison to a normal genome. It was originally thought that a CNV consisted of a region of greater than 1 kilobases, however advances in technology have allowed for identification of CNVs as small as 50 basepairs1.

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Topics: biosynthetic reference materials, Clinical NGS Assays, Copy Number Variations (CNVs), Lung Cancer, Brain Cancer, Breast Cancer, tumor profiling

Reliable Interpretation of NGS Data: New Poster Talk Video

Posted by Cynthia Hendrickson, CEO Directed Genomics on Feb 1, 2018 8:00:00 AM

The ability to rapidly and effectively evaluate the performance of customized next-generation sequencing (NGS) panels is critical to provide high-quality sequencing solutions to customers. New England Biolabs®, together with Directed Genomics®, is developing a new offering, NEBNext Direct® Custom Ready Panels, which will allow researchers to select from a large library of genes for which baits have been developed and optimized, thus enabling rapid deployment of customized target-enrichment panels. Directed Genomics has been collaborating with SeraCare Life Sciences in order to streamline the optimization and characterization of NEBNext Direct target enrichment panels. 

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Topics: NGS, SeraSeq, NGS assays, Variant Allele Frequencies, highly-multiplexed reference material, NGS reference materials, AMP2017, reference materials

 
 

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