Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …

Tumour heterogeneity in primary prostate cancer is a well-established phenomenon.
However, how the subclonal diversity of tumours changes during metastasis and …

Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …

Emerging evidence suggests that poor glycemic control mediates post-translational
modifications to the H3 histone tail. We are only beginning to understand the dynamic role of …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …

Clinical validity assessments of gene-disease associations underpin analysis and reporting
in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these …

Objective Although counting of circulating tumour cells (CTC) has attracted a broad interest
as potential markers of tumour progression and treatment response, the lack of functional …

Purpose The purpose of the study was to implement and prospectively evaluate the
outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods …

Purpose To systematically investigate the longer-term clinical and health economic impacts
of genomic sequencing for rare-disease diagnoses. Methods We collected information on …