"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
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ABSTRACT:
SUBMITTER: Kremer LS
PROVIDER: S-EPMC5959960 | biostudies-other | 2018 May
REPOSITORIES: biostudies-other
Publications
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Kremer Laura S LS Wortmann Saskia B SB Prokisch Holger H
Journal of inherited metabolic disease 20180125 3
Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25-60% still leaves a large fraction of individuals without a diagnosis. This indicates a causative role for non-exonic regulatory variants not covered by whole exome sequencing. Here we review how systematic RNA-sequencing analysis (RNA-seq, "transcriptomics") lead to a molecular diagnosis in 10-35% of pati ...[more]
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