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Title:¡¡Genomic Analysis Platform for Clinical Interpretation of Genomic Mutations

Abstract
Advances in sequencing technology in the past few decades have extensively expanded our understanding of the genetics of disorders. Recent various high-throughput sequencing (HTS) analyses of structural brain malformations, neuropsychiatric disorders, and cancer development have uncovered a diverse genetic landscape of Mendelian and non-Mendelian patterns of inheritance. These HTS analyses are becoming essential and routine approaches for diagnosing genetic diseases, as well as discovering new disease mechanisms. In this lecture, we will cover an overview of the current understanding of mutation patterns and genomic analysis platforms for clinical interpretation of the identified mutations.