Diagnostic next generation sequencing data analysis for variant: Requirements and a proposition [Hastalık tanısı için yeni nesil dizileme verisi analizi: Gereksinimler ve bir çözüm önerisi]

Küçük Resim Yok

Tarih

2018

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

CEUR-WS

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

The rapid advance in genome sequencing technology has led to the decrease of sequencing costs and hence, to the production of vast amount of genomic data. It is not possible to process the large amount of Next-Generation Sequencing Data without the use of information and communication technologies. In this study, we discuss the requirements with respect to the secure storage, access and analysis of rapidly expanding genomic data, and we present the solution we propose as part of an ongoing TEYDEB project. Within the scope of the TEYDEB project titled “Development of a fast kit for the diagnosis of frequent newborn metabolic diseases with Next-Generation Sequencing data analysis”, a DNA testing kit for the diagnosis of 10 metabolic diseases will be developed using genomic markers. In this study, we propose a solution for the storage and automatization of data analysis of the data generated by Oxford Nanopore MinIon.

Açıklama

12th Turkish National Software Engineering Symposium, UYMS 2018 -- 10 September 2018 through 12 September 2018 -- 139255

Anahtar Kelimeler

Genetic Variants, Nanopore, Newborn Screening Tests, Next Generation Sequencing Data Analysis

Kaynak

CEUR Workshop Proceedings

WoS Q Değeri

Scopus Q Değeri

N/A

Cilt

2201

Sayı

Künye