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- Publisher Website: 10.1016/j.smim.2024.101901
- Scopus: eid_2-s2.0-85208101752
- PMID: 39509871
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Article: NGS data analysis for molecular diagnosis of Inborn Errors of Immunity
| Title | NGS data analysis for molecular diagnosis of Inborn Errors of Immunity |
|---|---|
| Authors | |
| Keywords | Bioinformatics Genetics Inborn errors of immunity Molecular diagnosis Next-generation sequencing |
| Issue Date | 1-Jul-2024 |
| Publisher | Elsevier |
| Citation | Seminars in Immunology, 2024, v. 74-75 How to Cite? |
| Abstract | 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. |
| Persistent Identifier | http://hdl.handle.net/10722/366334 |
| ISSN | 2023 Impact Factor: 7.4 2023 SCImago Journal Rankings: 2.977 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Yang, XT | - |
| dc.contributor.author | Yang, WL | - |
| dc.contributor.author | Lau, YL | - |
| dc.date.accessioned | 2025-11-25T04:18:49Z | - |
| dc.date.available | 2025-11-25T04:18:49Z | - |
| dc.date.issued | 2024-07-01 | - |
| dc.identifier.citation | Seminars in Immunology, 2024, v. 74-75 | - |
| dc.identifier.issn | 1044-5323 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/366334 | - |
| dc.description.abstract | 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. | - |
| dc.language | eng | - |
| dc.publisher | Elsevier | - |
| dc.relation.ispartof | Seminars in Immunology | - |
| dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
| dc.subject | Bioinformatics | - |
| dc.subject | Genetics | - |
| dc.subject | Inborn errors of immunity | - |
| dc.subject | Molecular diagnosis | - |
| dc.subject | Next-generation sequencing | - |
| dc.title | NGS data analysis for molecular diagnosis of Inborn Errors of Immunity | - |
| dc.type | Article | - |
| dc.identifier.doi | 10.1016/j.smim.2024.101901 | - |
| dc.identifier.pmid | 39509871 | - |
| dc.identifier.scopus | eid_2-s2.0-85208101752 | - |
| dc.identifier.volume | 74-75 | - |
| dc.identifier.eissn | 1096-3618 | - |
| dc.identifier.issnl | 1044-5323 | - |