BioDiscovery Blog

Featured Post

The Secret is out - NxClinical 4.1 is here!

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.

Featured Post

Looking back at ACMG 2018

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

Featured Post

ACMG 2018 in Charlotte is Right Around the Corner! 

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

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.

Nexus Copy Number 10.0 is here

Post Excerpt

Another Successful ACC Conference

Another successful ACC event. The ACC conference is a great way to really connect with the thought leaders in the cytogenetic community. Read this blog to get the conference highlights!

Heritable retinal dystrophies - trio analysis in NxClinical

A recent NxClinical case study features familial and trio analysis of a patient population in Costa Rica. Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.

Chatting with Dr. Ingrid Simonic about Consolidation of Multiple Testing Strategies

Recently we spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, about the current stage of testing strategies, in particular the workflow at her hospital. She discussed how they perform many tests at the hospital and not necessarily because there are that many patients but that several tests are performed per patient.

The Secret is out - NxClinical 4.1 is here!

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.

Looking back at ACMG 2018

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

ACMG 2018 in Charlotte is Right Around the Corner! 

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

A recent Science article, "Phenotype risk scores identify patients with unrecognized Mendelian disease patterns", from Vanderbilt University Medical Center leverages the phenotypic patterns of Mendelian diseases to detect rare-variant associations and finds that most of the individuals with statistically significant variants were undiagnosed with the target Mendelian disease.

BioDiscovery and Thermo Fisher Scientific Sign OEM Partnership

Recently, BioDiscovery signed an OEM partnership deal with Thermo Fisher Scientific for analysis software for the OncoScan Assay. The partnership allows the two companies to merge their expertise in high-throughput genomic data analysis software and array based assays for the cancer genomics market. BioDiscovery developed Nexus Express for OncoScan software for Thermo Fisher's OncoScan CNV Assay for solid tumor analysis.