I need informations about the use of next generation sequencing for intellectual disabilities ID

Expert Solution

A major cause of intellectual disability (ID) is hereditary or genomic mutation. Given the commonly anticipated good genotype / phenotype association for ID, however, there are considerable obstacles to gene recognition, except perhaps where very distinct syndromic features are observed due to the high degree of genetic heterogeneity and large phenotype variation for different mutations or even with the same mutation within a single gene.

While recent advances in sequencing technology have increased the pace of gene discovery for ID, the vast majority of ID genes remain undetected even where family sizes are high. ID is often split into two groups: non-syndromic and syndromic recognition. 40 recognized genes for non-syndromic autosomal recessive ID, but estimates that over 2,500 autosomal ID genes can exist in total, with the majority recessive. The study also reported that 13%-24% of cases of ID in Europe are probably due to autosomal recessive causes

With the advent of massively parallel sequencing of DNA, also known as next-generation sequencing (NGS), a major step forward has been made in recognizing genes and mutations that cause ID. In addition, the potential to use NGS in a clinical setting opens up the possibility of uncovering the genetic contribution for a large percentage of ID individuals at first onset of symptoms and hopefully opening up opportunities for early therapeutic interventions.

WGS is the most accurate and reliable diagnostic test available, but it is hindered by the high cost of sequencing and data analysis, management and storage issues. WGS ' real strengths are the sequencing of the genome's non-coding regulatory regions, as well as the much greater ability to identify CNVs relative to data from WES. WGS is still a state-of - the-art technology and techniques are continually being developed to analyze WGS data, but for clinical diagnostic implementation careful validation is required.

Rahul Sunny answered 15 hours ago

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