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.
NxClinical provides a novel, integrated approach to clinical genome analysis and interpretation.
Using a combination of genomic sequencing technologies and bioinformatic tools, PerkinElmer Genomics is paving the way to replace traditional microarray analyses for constitutional genomics with NGS. Dr. Alka Chaubey, PerkinElmer Genomics, presented development and validation of the new CNGnome™ Test and comparison to traditional CMA. Dr. Chaubey also discusses how NxClinical was selected for use with their new assay and shows how the software was invaluable in the interpretation process.
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.
We are excited to announce the release of NxClinical 4.1! Our unique software solution for integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. NxClinical 4.1 allows combined analysis and interpretation of all genomic variants on a single, platform agnostic system.
Happy 2018! 2017 saw a renewed interest in copy number analysis particularly from NGS data and I think it's going to be a key topic in 2018. The ability to obtain copy number from the same assay as that used for SNVs is an important topic among genetics labs. Clinicians are now starting to realize the major benefits in consolidating tests to a single NGS assay analyzed on a single software system.
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.
BioDiscovery is starting its new season with new product releases at ASHG in mid-October. It is bound to bring excitement to the genetic testing field, as NFL does to the football fans. Since NGS (next-generation sequencing) is still a hot topic, people will see lots of new things on this front in BioDiscovery's NxClinical 4.0 version.
A recent article in Nature Communications describes the use of mitochondrial DNA sequencing to study population genomics in ancient civilizations. Mitochondrial DNA from a set of 151 ancient Egyptian mummies from a 1300 year span were sequenced.