Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
In summary, RNA-seq had high diagnostic utility as an ancillary test across specific real-world clinical scenarios. The findings also underscore the ability of RNA-seq to reveal novel disease mechanisms relevant to diagnostics and treatment.
Authors
- Olivia Moran (ORCID: https://orcid.org/0000-0002-8134-8345)
- Jamie C Stark
- Huayun Hou (ORCID: https://orcid.org/0000-0003-3971-1427)
- Rose Chami (ORCID: https://orcid.org/0000-0002-1242-9352)
- Marisa Chard
- David A. Chitayat (ORCID: https://orcid.org/0000-0003-1944-7294)
- Neta Pipko
- Meryl Acker
- Roberto Mendoza‐Londono (ORCID: https://orcid.org/0000-0003-3542-8106)
- Jessie Cameron
- Rebekah Jobling (ORCID: https://orcid.org/0000-0003-3596-8161)
- Lianna Kyriakopoulou (ORCID: https://orcid.org/0000-0001-8929-8082)
- Megan A. Dickson (ORCID: https://orcid.org/0009-0001-7856-4856)
- Michael D. Wilson (ORCID: https://orcid.org/0000-0002-4015-3066)
- Kenzie Pulsifer (ORCID: https://orcid.org/0000-0001-8373-9975)
- James J. Dowling (ORCID: https://orcid.org/0000-0002-3984-4169)
- Kyoko E. Yuki (ORCID: https://orcid.org/0000-0003-0726-3914)
- Ashish R. Deshwar (ORCID: https://orcid.org/0000-0002-9239-3846)
- Mohammad Mahdi Ghahramani Seno (ORCID: https://orcid.org/0000-0001-7376-2004)
- Gregory Costain (ORCID: https://orcid.org/0000-0003-0099-9945)
- Anna Szuto (ORCID: https://orcid.org/0000-0001-9140-6193)
- Christian R. Marshall (ORCID: https://orcid.org/0000-0002-4003-7671)
- Kym M. Boycott (ORCID: https://orcid.org/0000-0003-4186-8052)
- Elizabeth Bonnell
- Meredith Laver
- Yijing Liang (ORCID: https://orcid.org/0009-0005-8010-5308)
- Michal Inbar‐Feigenberg (ORCID: https://orcid.org/0000-0001-8128-5789)
- Harsha Murthy
- Jashanpreet Sidhu
- Lucie Dupuis
- Nicole Liang
- Sydney Scholten
- Chung Ting Tsoi
Institutions
- Mount Sinai Hospital (CA)
- Memorial University of Newfoundland (CA)
- Provincial Health Services Authority (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- Hospital for Sick Children (CA)
- Ted Rogers Centre for Heart Research (CA)
- Mental Health Research Canada (CA)
- SickKids Foundation (CA)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1186/s13073-025-01494-w
- Citations
- 9
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 16.36
Funders
- Hospital for Sick Children
- Sickkids Research Institute