A next-generation sequencing newborn screening review study: NGS for newborn screening of muscular dystrophy in saudi arabia.

1- Accurate purpose statement:
-To assess the analytic validity of the Next Generation DNA Sequencing technique as a potential newborn screening for muscular dystrophy disease.
2- Research Objectives:
We addresses the objectives of this review study by using information from peer-reviewed literature:
1-To identify the aspects of NGS, including current and expanding uses, bioinformatics challenges,validation and proficiency, limitations, and issues related to the integration of NGS data into patient care.
2-to describe current pathways that involve the use of genetic testing by using information from the literature include challenges associated with
introducing NGS technologies into routine newborn screnning in saudi arabia.
3- Definition of muscular dystrophy disease and its symptoms
4- Explore the feasibility of a next-generation sequencing (NGS) screening method specifically for muscular dystrophy disease
5- What the Next generation sequencing (NGS) strategies for the genetic testing of myopathies?
3-Measurement of analysis:
-Obtain at least 10 peer-reviewed random studies in Saudi Arabia of next generation DNA sequencing technique in genetic disorders field.


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