Article
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Annals of human genetics - 1 Nov 2020
Alsubaie Lamia, Aloraini Taghrid, Amoudi Manal, Swaid Abdulrahman, Eyiad Wafaa, Al Mutairi Fuad, Ababneh Farouq, Alrifai Muhammad Talal, Baarmah Duaa, Altwaijri Waleed, Alotaibi Naser, Harthi Ashraf, Rumayyan Ahmad, Alanazi Ali, Qrimli Mohammad, Alfadhel Majid, Alfares Ahmed
Abstract excerpt
INTRODUCTION: Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagnosis was mainly based on epilepsy gene panels and not on whole exome and/or genome sequencing....
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