Over the last two decades, transcriptomics has become a standard technique in biomedical research. We now have large databases of RNA-seq data, accom…
Mesothelioma is a cancer derived from mesothelial cells, most commonly arising from the pleura or the peritoneum. Immune checkpoint therapy (ICT) has…
Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to a…
Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic var…
Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousa…
Platinum-based chemotherapy in combination with anti-PD-L1 antibodies has shown promising results in mesothelioma. However, the immunological mechani…
A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions.…
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical an…