2 hasil untuk "Morgan Driver"
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Artikel Jurnal
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes
Abstract RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and…
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Artikel Jurnal
Diagnostic yield of genome sequencing for children with intellectual disability and developmental delay
BackgroundGenome sequencing (GS) has recently been considered as a first-tier diagnostic tool for individuals with intellectual disability (ID) and developmental delay (DD). In this study, we assess the diagnostic yield of GS for a large cohort of children with ID/DD and describe variants…