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Benefits of migrating from GRCh37 to GRCh38 for CNV analysis and reporting – a panel discussion with clinical genomics experts 

Are you still on GRCh37 and considering transitioning to the latest human reference genomes? Current reference genomes, GRCh37 and GRCh38, are important genomic assemblies that offer scientists a single consensus representation of the human genome to extract meaningful insights into sample genomic variation and disease association. It is important for laboratories to maintain a current version of the genome assembly to ensure the most up-to-date knowledge is applied and analyses are aligned to the genome build leveraged by clinical consortia, such as ClinGen.  

During this one-hour panel discussion, three clinical genomics experts will discuss the challenges to transitioning, approaches for streamlining the process, and how utilizing NxClinical helped ease the transition process due to its ability to support analysis across genome builds. 

The clinical genomics expert panel includes:

Karen Woodward, Ph.D., MHGSA, FFSc (RCPA). Scientist in Charge (Microarray), Diagnostic Genomics, PathWest
Con Ngo, BSc. FHGSA (Cytogenetics).  Senior Scientist, Children's Hospital Westmead
Amber Boys, BBSci(Hons), MHGSA.  Senior Medical Scientist, Victorian Clinical Genetic Services