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        51-60 of 135 results for 'rare disease day'

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        Research

        TagDust2: A generic method to extract reads from sequencing data.

        Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads... ...

        Research

        Gateways to the FANTOM5 promoter level mammalian expression atlas

        The FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE. ...

        Research

        Linking FANTOM5 CAGE peaks to annotations with CAGEscan

        Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources ...

        Research

        Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

        Our data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during... ...

        News & Events

        Preterm respiratory researchers share what World Prematurity Day means to them

        Preterm researchers Dr Shannon Simpson (left) and Professor Jane Pillow (right) with Tony Sparks WA chairperson Amber Bates. ...

        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

        Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

        Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

        Research

        Coffee and tea consumption during pregnancy and risk of childhood acute myeloid leukemia: A Childhood Leukemia International Consortium (CLIC) study

        We investigated the potential association of maternal coffee and tea consumption during pregnancy with childhood acute myeloid leukemia risk ...

        Research

        The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

        The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

        Research

        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. ...

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