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Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical Data for Advancing COVID-19 Research
medRxiv - Genetic and Genomic Medicine Pub Date : 2020-08-14 , DOI: 10.1101/2020.07.24.20161307
Sergio Daga , Chiara Fallerini , Margherita Baldassarri , Francesca Fava , Floriana Valentino , Gabriella Doddato , Elisa Benetti , Simone Furini , Annarita Giliberti , Rossella Tita , Sara Amitrano , Mirella Bruttini , Ilaria Meloni , Anna Maria Pinto , Francesco Raimondi , Alessandra Stella , Filippo Biscarini , Nicola Picchiotti , Marco Gori , Pietro Pinoli , Stefano Ceri , Maurizio Sanarico , Francis P. Crawley , Alessandra Renieri , Francesca Mari , Elisa Frullanti ,

Within the GEN-COVID Multicenter Study, biospecimens from more than 1,000 SARS-CoV-2-positive individuals have thus far been collected in the GEN-COVID Biobank (GCB). Sample types include whole blood, plasma, serum, leukocytes, and DNA. The GCB links samples to detailed clinical data available in the GEN-COVID Patient Registry (GCPR). It includes hospitalized patients (74.25%), broken down into intubated, treated by CPAP-biPAP, treated with O2 supplementation, and without respiratory support (9.5%, 18.4%, 31.55% and 14.8, respectively); and non-hospitalized subjects (25.75%), either pauci- or asymptomatic. More than 150 clinical patient-level data fields have been collected and binarized according to the organs/systems primarily affected by COVID-19: heart, liver, pancreas, kidney, chemosensors, innate or adaptive immunity, and clotting system, for further statistics. Hierarchical Clustering analysis identified five main clinical categories: i) severe multisystemic failure with either thromboembolic or pancreatic variant; ii) cytokine storm type either severe with liver involvement or moderate; iii) moderate heart type either with or without liver damage; iv) moderate multisystemic involvement either with or without liver damage; v) mild either with or without hyposmia. GCB and GCPR are further linked to the GEN-COVID Genetic Data Repository (GCGDR), which includes data from Whole Exome Sequencing and high-density SNP genotyping. The data are available for sharing through the Network for Italian Genomes, within the COVID-19 dedicated section. The study objective is to systematize this comprehensive data collection and start identifying multi-organ involvement in COVID-19, defining genetic parameters for infection susceptibility within the population, and mapping genetically COVID-19 severity and clinical complexity among patients.

中文翻译:

采用系统的方法进行生物储库并分析遗传和临床数据以推进COVID-19研究

迄今为止,在GEN-COVID多中心研究中,已经从GEN-COVID生物库(GCB)中收集了1000多个SARS-CoV-2阳性个体的生物标本。样本类型包括全血,血浆,血清,白细胞和DNA。GCB将样品链接到GEN-COVID患者注册表(GCPR)中可用的详细临床数据。其中包括住院患者(74.25%),分为插管,CPAP-biPAP治疗,补充O2和无呼吸支持(分别为9.5%,18.4%,31.55%和14.8);非住院或无症状的受试者(25.75%)。根据主要受COVID-19影响的器官/系统,已收集并二值化了150多个临床患者水平数据字段:心脏,肝脏,胰腺,肾脏,化学传感器,先天性或适应性免疫以及凝血系统,进一步统计。层次聚类分析确定了五个主要的临床类别:i)血栓栓塞性或胰腺变异性的严重多系统衰竭;ii)细胞因子风暴类型,严重或伴有肝脏受累或中度;iii)有或没有肝脏损害的中度心脏型;iv)有或没有肝损害的中度多系统受累;v)有或没有低渗的轻度。GCB和GCPR还与GEN-COVID遗传数据存储库(GCGDR)相关联,其中包括来自全外显子组测序和高密度SNP基因分型的数据。可以通过COVID-19专用部分中的“意大利基因组网络”共享数据。研究目标是将这些全面的数据收集系统化,并开始确定多器官参与COVID-19,
更新日期:2020-08-15
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