Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals
المؤلفون المشاركون
Zhang, Tongda
Wu, Yiran
Lan, Zhangzhang
Shi, Quan
Yang, Ying
Guo, Jian
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-07-24
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Background.
Synonymous mutation is the single nucleotide change that does not cause an amino acid change but can affect the rate and efficiency of translation.
So recent increase in our knowledge has revealed a substantial contribution of synonymous mutations to human disease risk and other complex traits.
Nevertheless, there are still rarely synonymous mutation prediction methods.
Methods.
Nonsynonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association.
Here we defined synonymous and missense variation as single nucleotide substitution variation.
And then we evaluated the intolerance of genic transcripts to single nucleotide substitution variation based on gnomAD 123136 individuals.
After regressing all variations on common variations, we defined residuals of regression model as every genomics region intolerance scores.
Results.
We constructed a total of 24799 nonoverlapped region-based intolerance score by their intolerance to single nucleotide substitution variation (Syntool).
The results show that Syntool score can discriminate synonymous disease causing mutations in Human Gene Mutation Database (HGMD Professional) and ClinVar database much better than others.
Taken together, this study provides a novel prediction system for synonymous mutations, called Syntool, which could be helpful in identifying candidate synonymous disease causing mutations.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zhang, Tongda& Wu, Yiran& Lan, Zhangzhang& Shi, Quan& Yang, Ying& Guo, Jian. 2017. Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. BioMed Research International،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1137427
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zhang, Tongda…[et al.]. Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. BioMed Research International No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1137427
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zhang, Tongda& Wu, Yiran& Lan, Zhangzhang& Shi, Quan& Yang, Ying& Guo, Jian. Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1137427
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1137427
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