{"title":"用于先天性免疫错误分子诊断的 NGS 数据分析","authors":"XT Yang, WL Yang, YL Lau","doi":"10.1016/j.smim.2024.101901","DOIUrl":null,"url":null,"abstract":"<div><div>Inborn errors of immunity (IEI) encompass a group of disorders with a strong genetic component. Prompt and accurate diagnosis of these disorders is essential for effective clinical management. Next-generation sequencing (NGS) has significantly enhanced the diagnostic process by offering a comprehensive and scalable approach for identifying genomic variations causal for these disorders. Nevertheless, the bioinformatics analysis of NGS data poses several challenges. In this review, we explore these challenges and share our insights on addressing them, aiming to improve the overall diagnostic yield.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":null,"pages":null},"PeriodicalIF":7.4000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"NGS data analysis for molecular diagnosis of Inborn Errors of Immunity\",\"authors\":\"XT Yang, WL Yang, YL Lau\",\"doi\":\"10.1016/j.smim.2024.101901\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Inborn errors of immunity (IEI) encompass a group of disorders with a strong genetic component. Prompt and accurate diagnosis of these disorders is essential for effective clinical management. Next-generation sequencing (NGS) has significantly enhanced the diagnostic process by offering a comprehensive and scalable approach for identifying genomic variations causal for these disorders. Nevertheless, the bioinformatics analysis of NGS data poses several challenges. In this review, we explore these challenges and share our insights on addressing them, aiming to improve the overall diagnostic yield.</div></div>\",\"PeriodicalId\":49546,\"journal\":{\"name\":\"Seminars in Immunology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in Immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1044532324000393\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"IMMUNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in Immunology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1044532324000393","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
NGS data analysis for molecular diagnosis of Inborn Errors of Immunity
Inborn errors of immunity (IEI) encompass a group of disorders with a strong genetic component. Prompt and accurate diagnosis of these disorders is essential for effective clinical management. Next-generation sequencing (NGS) has significantly enhanced the diagnostic process by offering a comprehensive and scalable approach for identifying genomic variations causal for these disorders. Nevertheless, the bioinformatics analysis of NGS data poses several challenges. In this review, we explore these challenges and share our insights on addressing them, aiming to improve the overall diagnostic yield.
期刊介绍：
Seminars in Immunology is a specialized review journal that serves as a valuable resource for scientists in the field of immunology. The journal's approach is thematic, with each issue dedicated to a specific topic of significant interest to immunologists. It covers a wide range of research areas, from the molecular and cellular foundations of the immune response to the potential for its manipulation, highlighting recent advancements in these areas.
Each thematic issue is curated by a guest editor, who is recognized as an expert in the field internationally. The content of each issue typically includes six to eight authoritative invited reviews, which delve into various aspects of the chosen topic. The goal of these reviews is to provide a comprehensive, coherent, and engaging overview of the subject matter, ensuring that the information is presented in a timely manner to maintain its relevance.
The journal's commitment to quality and timeliness is further supported by its inclusion in the Scopus database, which is a leading abstract and citation database of peer-reviewed literature. Being indexed in Scopus helps to ensure that the journal's content is accessible to a broad audience of researchers and professionals in immunology and related fields.
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