The Variant Interpretation Virtual Symposium

Hear from clinical genomic leaders as they present variant interpretation best practices through case studies and real-life validations across a variety of applications that aided in the improvement of their laboratory output.

 Recording links can be found below. 

Distinguished speakers from

Dale Wright, Head of Cytogenetics for Sydney Genome Diagnostics at The Children’s Hospital at Westmead, Sydney

Dale Wright

An unorthodox journey and our experience for validation of NxClinical and the GSA Beadchip microarray

Recording now available (link below).

An overview of Westmead's journey in transitioning from a CGH microarray (Agilent Technologies) to the 24-plex GSA Beadchip (Illumina) platform and NxClinical software (BioDiscovery).

Learn more about the steps required for changing platforms and the cost-savings associated with this transition.

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Jianling (Jenny) Ji, MD, MS, FACMG, Assistant Director of Clinical Genomics Laboratory, Center for Personalized Medicine (CPM), Assistant Professor of Clinical Pathology, Keck School of Medicine of USC

Dr. Jenny Ji

Significance Associated with Phenotype (SAP) Score: A Method for Ranking Genes and Genomic Regions Based on Patient’s Phenotype

Recording now available (link below).

Dr. Ji introduces a novel metric, the Significance Associated with Phenotypes (SAP) score, as a ranking method that can be applied in combination with traditional variant filtering approaches to guide the analysis of WES data

Learn more about the utility of the SAP score as a metric for prioritizing variants in WES case analysis.

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Amber Boys, Senior Medical Scientist in the Division of Genetics and Genomics at the Victorian Clinical Genetics Services, Melbourne
Amber Boys

Embracing the power of the SNP. NxClinical facilitates detection of UPD and determination of parent of origin from SNP microarray data.

Recording now available (link below).

The power of SNP microarrays is readily apparent when analyzing patient data from a consanguineous union, but did you know trio prenatal analysis by SNP microarray can readily test for uniparental disomy, even when you are not expecting it? In my presentation, I will demonstrate how we use NxClinical to confirm or exclude UPD and determine the parent of origin for CNVs of interest. 

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Dom McMullan, BSc FRCPath, Consultant Clinical Scientist at West Midlands Regional Genetics Laboratories (WMRGL), Birmingham and leads the Rare Disease and Reproductive Genomics Programme. Lead Scientist for Rare Disease Genomics for the Central and South Genomic Lab Hub.

Dom McMullan

Implementing high-throughput cloud-based microarray analysis in the UK Genomic Medicine service

Recording now available (link below).

Consolidation of genomic laboratory services within England has ushered in a new demand for accessing data in a centralized location while also keeping it fully accessible to multiple sites throughout the country. West Midlands Regional Genetics Laboratories (WMRGL) arrived at the decision to move to a cloud-based data storage service using NxClinical as our software of choice for tertiary variant analysis of all microarray data.

Learn more about the benefits of this collaboration during this webinar.

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Colleen Bilancia, Ph.D. DABMGG, and Moises Serrano, Ph.D. ABMGG; Laboratory Directors at Lineagen, a Bionano Genomics Company

Dr. Colleen Bilancia and Dr. Moises Serrano

Real-world experience utilizing NxClinical for CNV detection using standard-of-care testing in Post-natal specimens

Recording now available (link below).

Lineagen, a Bionano Genomics Company has utilized the NxClinical software for the interpretation of copy number variations (CNVs) in post-natal populations. Two of Lineagen’s lab directors will describe their real-world experience of utilizing the variant database, pre-classification, custom tracks, and other functionalities while highlighting a few case examples. 

Join us to learn how this high-volume commercial genomics lab uses NxClinical to improve its clinical workflow.


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Get the software trusted by renowned academic and commercial clinical labs to stay on top of demanding, time-sensitive workloads.

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Dr. Karine Hovanes, PhD, FACMG

Vice President of Scientific Advancement and Laboratory Director, Invitae

Adoption of the NxClinical software has provided an efficient and secure workflow for our data batch loading and processing at our high volume clinical laboratory.


Dr. Sharon Mexal

Senior Director of Clinical Operations, Ambry Genetics

We were eager to be part of the Early Access program and try out NxClinical. We have now been using NxClinical for many years and each release has features that we find really useful. BioDiscovery has also been very receptive to feedback from us on feature requests and we are happy to see many of those implemented as they make our interpretation process even easier.


Dr. Matthew Breen

Professor, Genomics, Oscar J. Fletcher Distinguished Professor, Comparative Oncology Genetics

Nexus Copy Number is a powerful tool in our workflow, allowing direct visualization of data from numerous platforms, with a graphical interface that is as appealing as it is informative.


Dr. Yajuan Liu

Assistant Professor, Department of Pathology, University of Washington

We have been using Nexus Copy Number and are very happy with it. It allows direct visualization of data from different platforms with informative graphical interfaces. We integrated this powerful tool in our workflow.


Todd Ackely

Manager, Michigan Molecular Genetics Laboratory (MMGL)

My CAP/CLIA clinical lab has used BioDiscovery CNV software since 2012. I have evaluated many CNV analysis software programs and the BioDiscovery software always has been the best choice for my lab. BioDiscovery listens to their customers and utilizes this information to improve and refine their software for clinical laboratories.


Liqiang Song

Be Creative Lab

NxClinical software allows us to comprehensively analyze CNV,LOH and sequence variants together. The local database functionality has provided a lot of valuable experience for us. We can directly access up-to-date integrated database within NxClinical software and add tracks to the genome browser for clinical analysis requirements.


Dr. Sarah Murray

Director of Genomics Technologies, UC San Diego

At the UCSD clinical genetics lab, we are tasked with providing a complete and clinically actionable genomic profile of a patient’s tumor. NxClinical allows us to do this rapidly and comprehensively by allowing us to consider CNV, LOH, and sequence variants together within a single software.


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