کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
2820608 1160869 2015 5 صفحه PDF سفارش دهید دانلود رایگان
عنوان انگلیسی مقاله ISI
Combinatorial approach to estimate copy number genotype using whole-exome sequencing data
ترجمه فارسی عنوان
روش ترکیبی برای ارزیابی ژنوتیپ تعداد کپی با استفاده از داده های توالی کامل
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موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
چکیده انگلیسی


• CNV genotype estimation approach using a combination of existing methods
• Our approach was comprehensively compared with the customized Agilent array–comparative genomic hybridization.
• We found that our genotyping approach proved to be accurate, and reproducible, suggesting that it can complement existing CNV genotyping methods.

Copy number variations (CNVs) are known risk factors in complex diseases. Array-based approaches have been widely used to detect CNVs, but limitations of array-based CNV detection methods, such as noisy signal and low resolution, have hindered detection of small CNVs.Recently, the development of next-generation sequencing techniques has increased rapidly owing to declines in cost. Particularly, whole-exome sequencing has proved useful for finding causal genes and variants in complex diseases. Because gene copy number may affect expression, CNV genotyping can be very valuable in disease association studies. However, almost all current CNV detection tools consider only two types of CNV genotypes.In this study, we propose a CNV genotype estimation approach using a combination of existing methods. Our approach was comprehensively compared with the customized Agilent array–comparative genomic hybridization. We found that our genotyping approach proved to be accurate, and reproducible, suggesting that it can complement existing CNV genotyping methods.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Genomics - Volume 105, Issue 3, March 2015, Pages 145–149
نویسندگان
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