Improved Variant Calling Accuracy by Merging Replicates in Whole-Exome Sequencing Studies
المؤلفون المشاركون
Li, Chun
Cai, Qiuyin
Long, Jirong
Li, Bingshan
Zheng, Wei
Zhang, Yanfeng
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-08-04
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
In large scale population-based whole-exome sequencing (WES) studies, there are some samples occasionally sequenced two or more times due to a variety of reasons.
To investigate how to efficiently utilize these duplicated sequencing data, we conducted comprehensive evaluation of variant calling strategies.
92 samples subjected to WES twice were selected from a large population study.
These 92 duplicated samples were divided into two groups: group H consisting of the higher sequencing depth for each subject and group L consisting of the lower depth for each subject.
The merged samples for each subject were put in a third group M.
Using the GATK multisample toolkit, we compared variant calling accuracy among three strategies.
Hierarchical clustering analysis indicated that the two replicates for each subject showed high homogeneity.
The comparative analyses on the basis of heterozygous-homozygous ratio (Hete/Homo), transition-transversion ratio (Ti/Tv), and overlapping rate with the 1000 Genomes Project consistently showed that the data quality of the SNPs detected from the M group was more accurate than that of SNPs detected from the H and L groups.
These results suggested that merging homogeneous duplicated exomes instead of using one of them could improve variant calling accuracy.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zhang, Yanfeng& Li, Bingshan& Li, Chun& Cai, Qiuyin& Zheng, Wei& Long, Jirong. 2014. Improved Variant Calling Accuracy by Merging Replicates in Whole-Exome Sequencing Studies. BioMed Research International،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-463194
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zhang, Yanfeng…[et al.]. Improved Variant Calling Accuracy by Merging Replicates in Whole-Exome Sequencing Studies. BioMed Research International No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-463194
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zhang, Yanfeng& Li, Bingshan& Li, Chun& Cai, Qiuyin& Zheng, Wei& Long, Jirong. Improved Variant Calling Accuracy by Merging Replicates in Whole-Exome Sequencing Studies. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-463194
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-463194
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