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What’s in a name?

In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At The Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers.

Expression Levels of Therapeutic Targets as Indicators of Sensitivity to Targeted Therapeutics

We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets

The role and therapeutic implications of T cells in cancer of the lung

This review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs

Bilateral murine tumor models for characterizing the response to immune checkpoint blockade

This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade

Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discovery

This review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development

Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients.