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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. 

Presentations:

ingridedited-2.pngAre we good at tailoring our clinical NGS analysis for individual patients or should we optimize more?

Dr. Ingrid Simonic
Head of Cytogenetics
Cambridge University Hospitals

 

ben darbro oval crop pic.jpgDiscovery of dual diagnoses and compound genetic events using NxClinical 4.0

Dr. Benjamin Darbro
Director of Cyto & Molecular
University of Iowa Hospitals & Clinics

 

daynna wolff oval crop pic.jpgCopy number and sequencing analysis of children and families with heritable retinal dystrophies in Costa Rica: High prevalence of mutations in regions of autozygosity

Dr. Daynna Wolff
Director, Clinical Cytogenetics & Genomics
Dept. of Pathology & Laboratory Medicine
Medical University of South Carolina

 

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