Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
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Abstract
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.
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Previous studies have reported that RNA-Seq helps interpret VUSs identified through WES/WGS when linked to an aberrant transcript event, and detects variants missed by current standard diagnostic approaches in rare diseases.
“Previous studies have reported that RNA-Seq helps interpret VUSs identified through WES/WGS when linked to an aberrant transcript event, and detects variants missed by current standard diagnostic approaches in rare diseases [42,45,46].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [46]
Direct functional genomic exploration of accessible and disease-relevant tissues from patients using RNA sequencing and DNA methylation assays can identify previously cryptic causal genetic variants, particularly in under-explored noncoding regions.
“Direct functional genomic exploration of accessible and disease-relevant tissues from patients using RNA sequencing and DNA methylation assays30,31 can identify previously cryptic causal genetic variants, particularly in under-explored regions outside protein-coding genes32,33.”
From A brief history of human disease genetics (2020) · cites this paper as [30]
Deep sequencing of affected tissues for mosaic variants and RNA sequencing for noncoding variants are new fronts in clinical diagnostics.
“Deep sequencing of affected tissues for mosaic variants and the use of RNA sequencing to detect noncoding variants that drive early-onset disease (for example, through effects on splicing) represent new fronts for clinical diagnostics30.”
From A brief history of human disease genetics (2020) · cites this paper as [30]
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Self-citation
- Authors
- Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., Estrella, E., Reddy, H. M., Zhao, F., Weisburd, B., Karczewski, K. J., O’Donnell-Luria, A. H., Birnbaum, D., Sarkozy, A., Hu, Y., Gonorazky, H., Claeys, K., Joshi, H., Bournazos, A., Oates, E. C., Ghaoui, R., Davis, M. R., Laing, N. G., Topf, A., Genotype-Tissue Expression Consortium, Kang, P. B., Beggs, A. H., North, K. N., Straub, V., Dowling, J. J., Muntoni, F., Clarke, N. F., Cooper, S. T., Bönnemann, C. G., & MacArthur, D. G.
- Affiliations
- Broad Institute (US)
- National Institutes of Health (US)
- Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
- The University of Sydney (AU)
- Boston Children's Hospital (US)
- University of Florida Health (US)
- Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
- Dubowitz Neuromuscular Centre, University College London Institute of Child Health, London WC1N 1EH, U.K.
- Hospital for Sick Children (CA)
- Universitair Ziekenhuis Leuven (BE)
- Pathwest Laboratory Medicine (AU)
- The University of Western Australia (AU)
- John Walton Muscular Dystrophy Research Centre, MRC (Medical Research Council) Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, U.K.
- Royal Children's Hospital (AU)
- Corresponding author
- MacArthur, Daniel G.
- ORCID
- Cummings, Beryl B.
- Marshall, Jamie L.
- Tukiainen, Taru
- Lek, Monkol
- Donkervoort, Sandra
- Foley, A. Reghan
- Bolduc, Veronique
- Sandaradura, Sarah A.
- Estrella, Elicia
- Reddy, Hemakumar M.
- Zhao, Fengmei
- Weisburd, Ben
- Karczewski, Konrad J.
- O’Donnell-Luria, Anne H.
- Sarkozy, Anna
- Hu, Ying
- Gonorazky, Hernan
- Claeys, Kristl
- Joshi, Himanshu
- Bournazos, Adam
- Oates, Emily C.
- Ghaoui, Roula
- Davis, Mark R.
- Laing, Nigel G.
- Kang, Peter B.
- Beggs, Alan H.
- North, Kathryn N.
- Straub, Volker
- Dowling, James J.
- Cooper, Sandra T.
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Venue
- Science Translational Medicine
- Published
- 2017-04-19
- Volume
- 9
- Issue
- 386
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5548421
- OpenAlex
- W2949444664
- Semantic Scholar
- c52d43bbc7f00869c479599f50d84c7694433f5c
- Cited by
- 831
- References
- 49
- Citations by year
- 2026: 66 · 2025: 59 · 2024: 81 · 2023: 76 · 2022: 110 · 2021: 114 · 2020: 124 · 2019: 101 · 2018: 67 · 2017: 27 · 2016: 1 · 2014: 1 · 2013: 1
- FWCI
- 57.94
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Science Translational Medicine (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
- UWA Profiles and Research Repository (UWA) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- UCL Discovery (University College London) (submittedVersion)
- Lirias (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Broad Institute (Broad Ignite)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- monogenic disorders, genetic diagnosis, transcriptome sequencing, triple-helical domain, rare diseases, pathogenic variant identification, variant interpretation
- MeSH terms
- Humans, Muscular Diseases, Mutation, Collagen Type VI, High-Throughput Nucleotide Sequencing, Transcriptome
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