Topic: Nxclinical
OMIM data in NxClinical
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database consisting of human genes and genetic phenotypes associated with Mendelian disorders. The database is used by genetic labs to assist in interpretation. It is maintained by Johns Hopkins University and is available freely via the online GUI for personal, educational, or research use but other uses, usage by certain types of organizations, as well as downloading or incorporating with products does carry licensing fees.
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.
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.
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.
NxClinical February track updates
Post ExcerptThis week many new tracks were added to the NxClinical track auto-update system. Below is a detailed description of what was added. CIViC – CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer.
ASHG workshop videos
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.
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.
Join us at ASHG 2017!
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.
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