A bioinformatic method for sorting variants in the region of genome
محل انتشار: اولین کنگره پزشکی شخصی
سال انتشار: 1395
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 611
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شناسه ملی سند علمی:
IPMCMED01_051
تاریخ نمایه سازی: 23 آذر 1397
چکیده مقاله:
Next-generation sequencing technologies made a revolution in genome sequencing and our understanding about genome architecture. Comprehensive survey of genetic variants and their relationship with disease could be possible by these technologies. Deciphering of genome sequences is essential for the mapping of genetic diseases and risk evaluation. Numerous computational algorithms for identifying and characterizing variants have been developed, but most of them are neither integrated nor interoperable and considering of research purposes we have to use different methods and algorithms. In the past for few years human genome structural variation discoveries has enjoyed increased attention from the genomics research community.One of the things that significant for determination of relevance between variants and disease is to find and sort variants in a particular region of the genome. Numerous algorithm and software developed for this purpose, but working with these tools requires high skill or proficiency in programming, such as R program. In this paper we want to introduce an easy way without need in programming for this purpose. In this way we use GALAXY a web-based program for sorting variants, we import our target sequences into GALAXY from UCSC or other similar databases.
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