Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program
Jingwen Zhang, So-hyeon Hong, Xin Wang, Sean J. Jurgens, Ching-Ti Liu, Josée Dupuis, Patrick T. Ellinor, George T. O’Connor, Quanshun Mei, Seung Hoan Choi · 2026
Read Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program by Jingwen Zhang, So-hyeon Hong, Xin Wang, Sean J. Jurgens, Ching-Ti Liu, Josée Dupuis, Patrick T. Ellinor, George T. O’Connor, Quanshun Mei, Seung Hoan Choi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13507129.txt.
Description
Jingwen Zhang leads a 2026 team that adds transcript awareness to rare variant hunting in heart and lung traits. Genes can make several transcript versions, and standard tests that use one version can miss real effects. Their method tests each version, then combines results into one gene score while keeping false alarms in check.
Simulations showed power close to knowing the best version in advance. Applied to whole-genome data from over 240000 people in the All of Us program across 129 traits, the method found eleven new gene links and recovered forty-seven known ones. For the TTN gene, it pinpointed the N2B version as the strongest tie to heart muscle disease.
Catalog record
| CREATOR | Jingwen Zhang, So-hyeon Hong, Xin Wang, Sean J. Jurgens, Ching-Ti Liu, Josée Dupuis, Patrick T. Ellinor, George T. O’Connor, Quanshun Mei, Seung Hoan Choi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 54255 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |