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14th Annual Biocuration Conference (virtual) - Abstracts from the invited speakers talks and poster session presentations [article]

Federica Quaglia
<span title="2021-10-14">2021</span> <i title="Zenodo"> Zenodo </i> &nbsp;
booklet of the 14th Annual Biocuration Conference (virtual), including invited speakers talks and poster session presentations  ...  Here we report the creation of patterns to support the reclassification of the chromosomal anomaly branch of Mondo.  ...  DisProt in 2021: expanding manually curated annotation of IDPs The Mondo Disease Ontology (Mondo) integrates multiple disease terminologies into a coherent logic-based ontology that provides precise semantic  ... 
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.5281/zenodo.5570276">doi:10.5281/zenodo.5570276</a> <a target="_blank" rel="external noopener" href="https://fatcat.wiki/release/nlbkkzkhfvhdddqu4ypzh247iy">fatcat:nlbkkzkhfvhdddqu4ypzh247iy</a> </span>
<a target="_blank" rel="noopener" href="https://web.archive.org/web/20211015105221/https://zenodo.org/record/5570276/files/ISB2021%20-%20abstracts%20booklet.pdf" title="fulltext PDF download" data-goatcounter-click="serp-fulltext" data-goatcounter-title="serp-fulltext"> <button class="ui simple right pointing dropdown compact black labeled icon button serp-button"> <i class="icon ia-icon"></i> Web Archive [PDF] <div class="menu fulltext-thumbnail"> <img src="https://blobs.fatcat.wiki/thumbnail/pdf/63/fe/63fec20ffca3f5b0f508abf4884a9df1bfb093a6.180px.jpg" alt="fulltext thumbnail" loading="lazy"> </div> </button> </a> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.5281/zenodo.5570276"> <button class="ui left aligned compact blue labeled icon button serp-button"> <i class="unlock alternate icon" style="background-color: #fb971f;"></i> zenodo.org </button> </a>

Precision omics data integration and analysis with interoperable ontologies and their application for COVID-19 research

Zhigang Wang, Yongqun He
<span title="2021-06-22">2021</span> <i title="Oxford University Press (OUP)"> <a target="_blank" rel="noopener" href="https://fatcat.wiki/container/ybrdrifrfraydlephn44dplrgu" style="color: black;">Briefings in Functional Genomics</a> </i> &nbsp;
and hypotheses of molecular mechanisms underlying the outcomes of diseases such as COVID-19.  ...  To support precision omics, we propose a precision omics ontology hypothesis, which hypothesizes that the effectiveness of precision omics is positively correlated with the interoperability of ontologies  ...  Acknowledgements We acknowledge the support by the OBO Foundry ontology community.  ... 
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1093/bfgp/elab029">doi:10.1093/bfgp/elab029</a> <a target="_blank" rel="external noopener" href="https://fatcat.wiki/release/2vr5c5luxbartb5sm75oetxemq">fatcat:2vr5c5luxbartb5sm75oetxemq</a> </span>
<a target="_blank" rel="noopener" href="https://web.archive.org/web/20210624065117/https://watermark.silverchair.com/elab029.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAArIwggKuBgkqhkiG9w0BBwagggKfMIICmwIBADCCApQGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMO52E1Z0Tzh-sFBNGAgEQgIICZaGhq49ykI7gAk275is3nq1EuRyrX2BQn-f1RIjzLBbU_n4z4Do9KkSMM1svLIPxcnB2Cgmfdp4BmJsl1OVy01MHJ2yfoSi6gJC9sV4tPojJkMw8eAZMnj__9nneEt1Bjz8fLMB-dXtg2o-2mMS8PxBeo8_YblNrfSaKzGkYl-fqwDc9zcY8OlPmqUPQOPrwWh8Fef5XkVly5b3F4AKhZogaw2p7kBdWfCy2KW1raU8xQkZDBCXfyTVPAlqc8WMZeONCD0bfm5NAFw12l5keR7wuPfuW0PpK7vkcZr0bzxAvVGK6r0Ck2gPyPHiKqEtdky_TqJNtE5A-9suJPdIS5Ax78yB1mQdRAOH4_qnRoyqQYXyh84KsAKYKTM7OkZi4a-xUZFEgIkPCsfDhgFAEOnuKVkWNZ-EDyZ3ZNAYWxNaTAdCPP9mxvMcgsKDEQsGEep17pKyuqtgRxszweDc9mufmanFVZZmOpBFfPfuphxog8TM7vkp3pyOi5j0ByjXVM4Spz3W0kQj2ybTq_2e8tZiePEJKMAWi7WL6D2FrnjeTmkybKuSbtOGXYJ4CQZgpj6Hnc-9wOjmIcG_DE5i300EVFWh8swY9NpAgT1eAtYC1GyDbnAAYLoJu8WOJJDkbbQ1sCLHu4HM2PhDibZBRoIx4gKrlU5FkrSws_dPzDXxxFOTkc-cy8BP8cKSaosXq7MgxKUTMKxESbew7h9wkTS2mr6eb2lZlXHj8eb9mE_o2pwDU0FvrpPyn3fHLOwHz6laIu00xRz9T5w0rjH0gX5kVSTXMOuBXScW_DgWQtw6Mhr7ZgDQ" title="fulltext PDF download" data-goatcounter-click="serp-fulltext" data-goatcounter-title="serp-fulltext"> <button class="ui simple right pointing dropdown compact black labeled icon button serp-button"> <i class="icon ia-icon"></i> Web Archive [PDF] <div class="menu fulltext-thumbnail"> <img src="https://blobs.fatcat.wiki/thumbnail/pdf/a9/f6/a9f6015f0f4db30292fbe55c1fb3e8c0543559d5.180px.jpg" alt="fulltext thumbnail" loading="lazy"> </div> </button> </a> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1093/bfgp/elab029"> <button class="ui left aligned compact blue labeled icon button serp-button"> <i class="external alternate icon"></i> oup.com </button> </a>

Abstracts for the 44th Human Genetics Society of Australasia Annual Scientific Meeting, 14–17 August 2021

<span title="2021-11-17">2021</span> <i title="Cambridge University Press (CUP)"> <a target="_blank" rel="noopener" href="https://fatcat.wiki/container/u7my2wkygjamrjaxyx22iv3kuq" style="color: black;">Twin Research and Human Genetics</a> </i> &nbsp;
This funding was used to employ an Associate Genetic Counselor for 8 weeks with the objectives to: (1) see 100% of CAT1 patients in 30 days, (2) see 90% of CAT2 patients in 90 days, and (3) reduce CAT3  ...  For the purpose of analysis, 'COVID' refers to  ...  Conclusion: We believe that genetic sequencing may in the future serve as an tool to assess the future course of PD.  ... 
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1017/thg.2021.45">doi:10.1017/thg.2021.45</a> <a target="_blank" rel="external noopener" href="https://www.ncbi.nlm.nih.gov/pubmed/34784998">pmid:34784998</a> <a target="_blank" rel="external noopener" href="https://fatcat.wiki/release/wr4rermu5nggpdinzxwfo6hmfu">fatcat:wr4rermu5nggpdinzxwfo6hmfu</a> </span>
<a target="_blank" rel="noopener" href="https://web.archive.org/web/20220122182859/https://www.cambridge.org/core/services/aop-cambridge-core/content/view/2DBBAC414987D9F01E90B4697CFF4FD9/S1832427421000451a.pdf/div-class-title-abstracts-for-the-44th-human-genetics-society-of-australasia-annual-scientific-meeting-14-17-august-2021-div.pdf" title="fulltext PDF download" data-goatcounter-click="serp-fulltext" data-goatcounter-title="serp-fulltext"> <button class="ui simple right pointing dropdown compact black labeled icon button serp-button"> <i class="icon ia-icon"></i> Web Archive [PDF] <div class="menu fulltext-thumbnail"> <img src="https://blobs.fatcat.wiki/thumbnail/pdf/36/76/3676fbcfbc43834e72a10c337e8566adfc644fad.180px.jpg" alt="fulltext thumbnail" loading="lazy"> </div> </button> </a> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1017/thg.2021.45"> <button class="ui left aligned compact blue labeled icon button serp-button"> <i class="external alternate icon"></i> cambridge.org </button> </a>