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.
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.
We had a great workshop at ASHG a few months ago. If you were not at the meeting or missed our workshop, you can still view our guest presenters' talks. We launched NxClinical 4.0 at the conference and prior to that we had some customers who got the chance to use it via our Early Access Program. A few of those users share their experiences in using NxClinical 4.0 specifically in the area of combining analysis and interpretation of CNV, SNV, and allelic events within a single software framework where copy number is derived from NGS data.
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.
We showed the benefits of an integrated review of CNV, AOH, and SNV using our NxClinical software which handles both array and NGS data in a single system.
Going to ASHG next week? Join us to learn more from clinical experts on the movement towards a single NGS assay and integrated analysis, visualization, and interpretation of genomic variants. We have a great roster of speakers lined up and you can get a sneak peek at the new NxClinical 4.0 software, so don’t miss this event.
Summer is sadly coming to an end and it’s time to wrap up our vacations and get ready for a busier Fall. Many take some time off for rest and relaxation over the summer but there are still a lot of accomplishments during this time. We’d like to highlight here some customer publications in oncology from this summer. The publications ranged across different cancer types including breast, blood, brain and are from customers across the globe.
We recently published a case study on Ambry Genetics’ use of our NxClinical software which has increased efficiency and has allowed Ambry to handle five times the case load without needing to obtain additional resources.
Great to see so many customer posters featuring Nexus Copy Number at AACR 2017 and even some using the newly released version 9.0 for deriving CNVs from low-pass WGS and cancer panel data.