Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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. CNVs are common, affecting a greater fraction of the human genome than single nucleotide polymorphisms (SNPs). CNVs tend to be found in segmental duplications, heterochromatic DNA, replication origins, and palindromic regions2. They can originate in the germline or accumulate as somatic variants, as a result of several proposed mechanisms. Although some genes can be deleted or amplified with no phenotypic consequence, there are examples of CNVs that play important functions in normal biological pathways, such as the amplification of ribosomal genes during early embryogenesis to increase production of ribosomes2. Alternatively, many CNVs are pathogenic and can cause disease, such as diabetes, autism spectrum disorder, Alzheimer’s disease, and cancer.

Read More

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

How am I going to test my assay? Should I use patient samples or biosynthetic materials?

Posted by Dan Brudzewsky on Jan 4, 2018 4:32:00 PM

Assay development and optimization for clinical genetics is increasingly challenging. In an era of clinical genomics, new technologies and clinical utilities constantly call for newer and better performing assays. Having access to an abundant supply of relevant and reliable test material is critical for quick assay development and well-documented assay performance.

Read More

Topics: assay development, biosynthetic reference materials, NGS reference materials

Accelerating Liquid Biopsy Assay Development

Session Summary from Next Generation Dx Summit 2017

Posted by Sam Blier on Sep 8, 2017 11:15:00 AM

At the 2017 Next Generation Dx Summit in Washington, DC, our CSO, Russell Garlick, PhD, presented a workshop on accelerating liquid biopsy assay development. He has worked closely with a variety of groups in the liquid biopsy space that are developing and validating circulating tumor DNA (ctDNA) assays. He highlighted some common challenges facing the field, and explained how SeraCare has been using these collaborations to develop QC tools specifically for ensuring the robustness of these cutting-edge tests.

Read More

Topics: ctDNA, liquid biopsy, assay development, circulating tumor DNA reference Materials, circulating cell-free DNA, biosynthetic reference materials, assay performance, 2017 Next Generation Dx Summit


Subscribe for Updates

Recent Posts


see all