دورية أكاديمية
أعرض في EDS

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.

التفاصيل البيبلوغرافية
العنوان: Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.
المؤلفون: Hassan S; Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia.; Institute for Medical Research, Shah Alam 40170, Malaysia., Bahar R; Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia., Johan MF; Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia., Mohamed Hashim EK; School of Health Sciences, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia., Abdullah WZ; Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia., Esa E; Institute for Medical Research, Shah Alam 40170, Malaysia., Abdul Hamid FS; Institute for Medical Research, Shah Alam 40170, Malaysia., Zulkafli Z; Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia.
المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Jan 19; Vol. 13 (3). Date of Electronic Publication: 2023 Jan 19.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2011]-
مستخلص: Thalassemia is one of the most heterogeneous diseases, with more than a thousand mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional PCR-based DNA analysis is time- and resource-consuming owing to the phenotype variability, disease complexity, and molecular diagnostic test limitations. Moreover, genetic counseling must be backed-up by an extensive diagnosis of the thalassemia-causing phenotype and the possible genetic modifiers. Data coming from advanced molecular techniques such as targeted sequencing by next-generation sequencing (NGS) and third-generation sequencing (TGS) are more appropriate and valuable for DNA analysis of thalassemia. While NGS is superior at variant calling to TGS thanks to its lower error rates, the longer reads nature of the TGS permits haplotype-phasing that is superior for variant discovery on the homologous genes and CNV calling. The emergence of many cutting-edge machine learning-based bioinformatics tools has improved the accuracy of variant and CNV calling. Constant improvement of these sequencing and bioinformatics will enable precise thalassemia detections, especially for the CNV and the homologous HBA and HBG genes. In conclusion, laboratory transiting from conventional DNA analysis to NGS or TGS and following the guidelines towards a single assay will contribute to a better diagnostics approach of thalassemia.
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معلومات مُعتمدة: FRGS/1/2019/SKK06/USM/02/8 Ministry of Higher Education
فهرسة مساهمة: Keywords: CNV; NGS; PCR; TGS; sequencing; thalassemia
تواريخ الأحداث: Date Created: 20230211 Latest Revision: 20230213
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9914462
DOI: 10.3390/diagnostics13030373
PMID: 36766477
قاعدة البيانات: MEDLINE
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