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        Research

        On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase

        SlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues ...

        Research

        C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

        We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system ...

        Research

        Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China

        In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. ...

        Research

        Reference exome data for Australian Aboriginal populations to support health-based research

        Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

        Research

        Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

        To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

        Research

        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 ...

        Research

        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 ...

        Research

        3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis

        Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

        Research

        Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

        There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

        Research

        Tumor Infiltrating Effector Memory Antigen-Specific CD8(+) T Cells Predict Response to Immune Checkpoint Therapy

        Immune checkpoint therapy (ICT) results in durable responses in individuals with some cancers, but not all patients respond to treatment. ICT improves CD8+ cytotoxic T lymphocyte (CTL) function, but changes in tumor antigen-specific CTLs post-ICT that correlate with successful responses have not been well characterized. Here, we studied murine tumor models with dichotomous responses to ICT. ...

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