ReviewJournal of inherited metabolic disease2018
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Review in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.Journal of inherited metabolic disease · 2025Article
- LNC-ing Genetics in Mitochondrial Disease.Non-coding RNA · 2024Article
- Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.JCI insight · 2024Article
- Impact of genome build on RNA-seq interpretation and diagnostics.American journal of human genetics · 2024Article
- Impact of genome build on RNA-seq interpretation and diagnostics.medRxiv : the preprint server for health sciences · 2024Article
- Article
- Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.Frontiers in cell and developmental biology · 2023Article
- Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders.Frontiers in neurology · 2023Article
- Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.Human mutation · 2022Review
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.Clinical genetics · 2022Article
- OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.Frontiers in cell and developmental biology · 2022Article
- Mitochondrial Disorders.Deutsches Arzteblatt international · 2021Review
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.Scientific reports · 2021Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- [Application of RNA sequencing in clinical diagnosis of Mendelian disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 patients in whom whole exome sequencing failed to do so. Importantly, RNA-sequencing 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.
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