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The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory
المؤلفون المشاركون
Yilmaz, Mustafa
Altıntaş, Derya Ufuk
Yalcin, Arzu D.
Boga, Ibrahim
Bingol, Gulbin
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-05-16
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Introduction.
Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells.
The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes.
However, this is not sufficient to confirm the suspicion of certain PIDs.
Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel.
Materials and Methods.
We have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced.
In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster.
Results and Discussion.
The causative mutation was identified in 46% of PIDs.
Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use.
Conclusions.
This study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics.
The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Yalcin, Arzu D.& Boga, Ibrahim& Yilmaz, Mustafa& Bingol, Gulbin& Altıntaş, Derya Ufuk. 2018. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Yalcin, Arzu D.…[et al.]. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Yalcin, Arzu D.& Boga, Ibrahim& Yilmaz, Mustafa& Bingol, Gulbin& Altıntaş, Derya Ufuk. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1129943
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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