BioDiscovery Resources

BioDiscovery ASHG 2017 Workshop

ASHG Workshop Customer Presentation Series

This ASHG 2017 customer presentation series will cover various topics in clinical interpretation and how NxClinical 4.0 is helping clinical labs achieve their goals. Learn from three experts in Cytogenetics and Molecular Genetics. 

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Dr. Ingrid Simonic
Head of Cytogenetics
Cambridge University Hospitals

Are we good at tailoring our clinical NGS analysis for individual patients or should we optimize more?

See how Dr. Simonic consolidates her existing 2-3 stage consecutive testing workflow for constitutional referrals into a single stage SNV/CNV analysis pipeline. 


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

Discovery of Dual Diagnoses and Compound Genetic Events using NxClinical 4.0

In Dr. Darbo's project, NxClinical 4.0 allowed for sequential interpretation of cases for CNVs, dominant SNVs, recessive SNVs, and compound events all generated from a single NGS assay.

 


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

Copy number and sequencing analysis of children and families with heritable retinal dystrophies in Costa Rica: High prevalence of mutations in regions of autozygosity

NxClinical allowed integrative analysis of copy number, areas of homozygosity and sequence variants allowing for comprehensive genetic analysis in a Costa Rican population.

 

 



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