Abstract

BARRAZA GARCIA, Jimena; CANO MORATILLA, Cristina  and  GONZALEZ DE LA VEGA, Alberto. Introduction to filtering, analysis and curation of genetic variants in patients with Intellectual Disability. Medicina (B. Aires) [online]. 2023, vol.83, suppl.2, pp.6-11. ISSN 0025-7680.

Currently, Whole exome sequencing (WES) using NGS (Next-generation sequencing) technology is one of the most requested genetic studies within the approach of patients with intellectual disability with or without other anomalies. As with other procedures and clinical studies, it is convenient for prescribing physicians to have a clear understanding of the scope and limitations of the use of WES, the analysis process of the genetic variants identified, as well as aspects to be evaluated regarding quality and structure of the reports of the NGS studies, with the aim that they can better interpret the results of a study, evaluate its quality, and propose in the best way the correlation of the same with the observed phenotype.

Keywords : Intellectual disability; Whole exome sequencing; Variant curation.

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