Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases
المؤلفون المشاركون
Gabriel, Andrzej
Michal, Mikula
Jerzy, Ostrowski
Goryca, Krzysztof
Dabrowska, Michalina
Paziewska, Agnieszka
Kulecka, Maria
Habior, Andrzej
Ambrozkiewicz, Filip
Walewska-Zielecka, Bożena
المصدر
Gastroenterology Research and Practice
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-05-24
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Background.
The proper use of new medical tests in clinical practice requires the establishment of their value and range of diagnostic usefulness.
While whole-exome sequencing (WES) has already entered the medical practice, recognizing its diagnostic usefulness in multifactorial diseases has not yet been achieved.
Aims.
The objective of this study was to establish usability of WES in determining genetic background of chronic cholestatic liver disease (CLD) in young patients.
Methods.
WES was performed on six young patients (between 17 and 22 years old) with advanced fibrosis or cirrhosis due to CLD and their immediate families.
Sequencing was performed on an Ion Proton sequencer.
Results.
On average, 19,673 variants were identified, of which from 7 to 14 variants of an individual were nonsynonymous, homozygous, recessively inherited, and considered in silico as pathogenic.
Although monogenic cause of CLD has not been determined, several heterozygous rare variants and polymorphisms were uncovered in genes previously known to be associated with CLD, including ATP8B1, ABCB11, RXRA, and ABCC4, indicative of multifactorial genetic background.
Conclusions.
WES is a potentially useful diagnostic tool in determining genetic background of multifactorial diseases, but its main limitation results from the lack of opportunities for direct linkage between the uncovered genetic variants and molecular mechanisms of disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kulecka, Maria& Habior, Andrzej& Paziewska, Agnieszka& Goryca, Krzysztof& Dabrowska, Michalina& Ambrozkiewicz, Filip…[et al.]. 2017. Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. Gastroenterology Research and Practice،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1156406
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kulecka, Maria…[et al.]. Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. Gastroenterology Research and Practice No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1156406
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kulecka, Maria& Habior, Andrzej& Paziewska, Agnieszka& Goryca, Krzysztof& Dabrowska, Michalina& Ambrozkiewicz, Filip…[et al.]. Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. Gastroenterology Research and Practice. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1156406
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1156406
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر