Improving genetic diagnosis of Mendelian disease with RNA sequencing: a narrative review

Zhou, Zhou; Sang, Qing; Wang, Lei

doi:10.1097/jbr.0000000000000100

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2023

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“…[151][152][153] In fact, a next-generation sequencing from RNA-seq to scRNA-seq, in particular combined with GWAS and/or DNA methylation analysis, [154][155][156] will identify novel susceptibility loci, reveal molecular characteristics and comprehensive cellular and molecular mechanisms. Different from whole-exome sequencing, [157,158] this new targeted and next-generation sequencing at the SC level, [159][160][161] that is scRNA-seq, [162][163][164] will definitely help to screen, diagnose, and treatment of CHD, [165] COVID, [166] and others.…”

Section: Cavdmentioning

confidence: 99%