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A bioinformatic method for sorting variants in the region of genome

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Year: 2016
COI code: IPMCMED01_051
Paper Language: English

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Authors A bioinformatic method for sorting variants in the region of genome

Vahid Akbari - student
Mohammd Taghi Akbari - Associate Professor
Marziyeh Kallhor - MSc student


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.


Next-generation sequencing, Variant, Algorithm, Galaxy

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COI code: IPMCMED01_051

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Akbari, Vahid; Mohammd Taghi Akbari & Marziyeh Kallhor, 2016, A bioinformatic method for sorting variants in the region of genome, First Personal Medical Congress, تهران, دانشگاه علوم پزشكي ايران - پژوهشكده ملي مهندسي ژنتيك و زيست فناوري ايران، مركز همكاري هاي فناوري و نوآوري هاي رياست جمهوري, the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Akbari, Vahid; Mohammd Taghi Akbari & Marziyeh Kallhor, 2016)
Second and more: (Akbari; Akbari & Kallhor, 2016)
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