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However, the diagnostic yield of 25\u201360% still leaves a large fraction of individuals without a diagnosis. This indicates a causative role for non\u2010exonic regulatory variants not covered by whole exome sequencing. Here we review how systematic RNA\u2010sequencing analysis (RNA\u2010seq, \u201ctranscriptomics\u201d) lead to a molecular diagnosis in 10\u201335% of patients in whom whole exome sequencing failed to do so. Importantly, RNA\u2010sequencing based discoveries cannot only guide molecular diagnosis but might also unravel therapeutic intervention points such as antisense oligonucleotide treatment for splicing defects as recently reported for spinal muscular atrophy.<\/jats:p>","DOI":"10.1007\/s10545-017-0133-4","type":"journal-article","created":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T09:18:00Z","timestamp":1516871880000},"page":"525-532","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["\u201cTranscriptomics\u201d: molecular diagnosis of inborn errors of metabolism via RNA\u2010sequencing"],"prefix":"10.1002","volume":"41","author":[{"given":"Laura S.","family":"Kremer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen Trogerstrasse 32 Munich 81675 Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen Munich 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