Topic: Next Gen Sequencing

Promising results for a new non-invasive prenatal test that uses single circulating trophoblasts

A recent study from Arthur Beaudet’s lab at Baylor College of Medicine published in the American Journal of Human Genetics (AJHG) looks at the ability to detect fetal aneuploidies and copy number variants (CNVs) at 1Mb resolution from single circulating trophoblast (SCT) cells in maternal blood.

Recent publications illustrate the wide applicability of BioDiscovery’s CNV from NGS algorithm

The BAM MSR algorithm uses a set of “normal” samples to create a pooled reference to be used against the samples under analysis. Here are a few recent publications showing the algorithm’s versatility in handling different types of NGS data from panels to low-pass whole genome.

Dazed by the same routine? Discover a Novel Integrated Approach to Clinical Genomic Analysis

NxClinical provides a novel, integrated approach to clinical genome analysis and interpretation.

Clinical Genome Data Analysis Workshop in China

To educate the community and encourage sharing of experiences and knowledge within the genetic testing labs, Be Creative recently hosted a workshop on clinical data analysis and interpretation using NxClinical.

Significant Cost Savings with Single NGS Test vs. Other Strategies

At the American Society of Clinical Oncology (ASCO) meeting last month, Dr. Nathan Pennell, Director of the Lung Cancer Medical Oncology Program at the Cleveland Clinic, and his colleagues presented cost analysis in a model with different types of genetics testing in metastatic non-small cell lung cancer (mNSCLC). The team showed that upfront NGS leads to significant cost savings vs. sequential single-gene testing modalities.

Back from China with a Partnership with Be Creative

BioDiscovery inked a deal with Be Creative Lab (Beijing) Co. Ltd. where Be Creative will be the sole reseller and distributor of BioDiscovery products in China. Be Creative is a clinical genetic testing center in Beijing, China, providing diagnostic support for a number of hospitals. Be Creative debuted NxClinical 4.0 at the Clinical Applications Conference which focused on comprehensive application of SNP-Array, NGS and other technology platforms to enhance clinical diagnostics. The conference, hosted by Be Creative, brought together 200 clinical genetics experts.

Can I Get Quality Copy Number Results from NGS data?

We have come a long way in a short amount of time with NGS (next-generation sequencing) technologies. Learn more about the benefits here!

Using CoNIFER to Detect Copy Number Variations from Exome Sequencing Data

CoNIFER can be used to discover CNVs that might be missed by standard practices. Look at our considerations when evaluating the CoNIFER algorithm.

Comparison of CNV detection from whole-exome sequencing (WES) as compared with SNP microarray

WES and SNP arrays detect concordant gene-level alterations. Learn how CNV detection from whole-exome sequencing (WES) compares with SNP microarray.

Review of “Statistical Challenges associated with detecting copy number variations with next-generation sequencing”

Learn more about CNV analysis by reading this review of the challenges with detecting copy number variations with next-generation sequencing.