12 research outputs found

    Automated and traceable processing for large-scale high-throughput sequencing facilities

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    Scaling up production in medium and large high-throughput sequencing facilities presents a number of challenges. As the rate of samples to process increases, manually performing and tracking the center’s operations becomes increasingly difficult, costly and error prone, while processing the massive amounts of data poses significant computational challenges. We present our ongoing work to automate and track all data-related procedures at the CRS4 Sequencing and Genotyping Platform, while integrating state-of-the-art processing technologies such as Hadoop, OMERO, iRODS, and Galaxy into our automated workflows. Currently, the core system is in its testing phase and it is on schedule to be in production use at CRS4 by May 2013. The results thus far obtained are encouraging and the authors are confident that the CRS4 Platform will increase its efficiency and capacity thanks to this system. In the near future, the integration components will be released as as open source software.23-24Pubblicat

    Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

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    Development and validation of a prediction model for severe respiratory failure in hospitalized patients with SARS-CoV-2 infection: a multicentre cohort study (PREDI-CO study)

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    Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

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    Newly identified TPOAb associated loci and the risk of thyroid disease in stage 1 and 2 populations.

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    <p>All analyses adjusted for age and gender.</p><p><i>ATXN2</i>-rs653178 is in high LD with <i>SH2B3-</i> rs3184504</p><p><i>MAGI3-</i>rs1230666 is in high LD with <i>PTPN22-</i>rs2476601</p

    Population characteristics and serum TPOAb, TSH, and FT4 level measurements specifications.

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    <p>Population characteristics and serum TPOAb, TSH, and FT4 level measurements specifications.</p

    Genetic risk score and the risk of TPOAb-positivity.

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    <p>GRS, genetic risk score (based on rs11675434, rs653178, rs10944479, rs1230666, rs2010099).</p>a<p>Adjusted for age and gender</p
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