Topic: Ngs

Publication notes superiority of NxClinical software for CNV detection from low pass sequencing

Low Pass Genome Sequencing (LP-GS) for detection of CNVs as a replacement to constitutional microarray analysis. The team evaluated a number of different tools and found NxClinical to have superiority in CNV detection and classification.

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

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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.

Did you catch the PerkinElmer Genomics' webinar on their new CNGnome test using NxClinical for analysis & 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.

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.

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!

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.

Does reanalysis improve diagnostic yield?

A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.