遗传病注释数据库中基因与变异名称的校验及更正

 目的 评估常用疾病注释数据库中基因名及变异表示的匹配程度和更新情况，对遗传疾病数据库（OMIM）中的基因名和疾病变异注释数据库（HGMD，ClinVar）中的变异所属转录本按照GENCODE v34参考标准进行校验并对不匹配当前版本的名称进行更正。方法 对于OMIM基因，我们以其提供的查询号为媒介，检查OMIM基因名是否与人类基因命名委员会（HGNC）和GENCODE的标准基因名匹配；对于HGMD及ClinVar中的变异所属的转录本，我们评估其在转录本查询号（RefSeq，ENSEMBL）中是否真实存在，以及其版本号是否滞后。结果 校验结果显示，OMIM中86.7%的基因名符合参考标准，ClinVar中有83.47%的变异通过校验，而HGMD中仅有18.78%的变异，其转录本与参考版本匹配，另有78.33%的变异所属转录本存在版本滞后的情况。我们对缺失部分信息的基因和变异进行缺失类型的标注；对校验后有出入的变异提供更新后的标准基因名称，转录本查询号和突变表示方式。结论 常用的遗传病注释数据库中基因和变异的表示存在一定程度的缺失、滞后及弃用情况。通过对基因名及变异所属转录本的校验及更正，可以有效提高遗传变异数据分析、解读、验证和交流的效率，辅助遗传病诊断和相关科研工作的顺利进行。

Application of next-generation sequencing in the diagnosis of periprosthetic joint infection pathogens

Objective To evaluate the capability of metagenomic next-generation sequencing (mNGS) in the pathogen diagnosis of periprosthetic joint infection (PJI) in order to provide clinical experience of choosing diagnostic methods. Methods From Jan 2017 to Dec 2019,patients with borderline symptoms were involved in this study.Intraoperative synovial fluid and periprosthetic tissues were both collected for microbial culture and mNGS.The pathogens were identified by symptoms,therapy and positive results. Results According to the criteria of Musculoskeletal Infection Society (MSIS),13 patients were diagnosed as PJI.The positive rate of mNGS was 84.62%,which was higher than that of culture method (76.92%).Staphylococcus aureus,Enterococcus faecium,Candida albicans and Mycoplasma hominis were the main detected pathogens of PJI.The detection time of mNGS was 48 h,which was significantly shorter than culture method (14 d). Conclusion With higher speed of detection in PJI,mNGS can provide vital etiological evidence for early accurate diagnosis of PJI.mNGS is an effective complement to microbial culture method, especially in culture-negative PJI.