Abstract
The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.
| Original language | English |
|---|---|
| Article number | 41 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 16 |
| Issue number | 1 |
| Pages (from-to) | 41 |
| ISSN | 1750-1172 |
| DOIs | |
| Publication status | Published - 21.01.2021 |
Funding
Thanks to Prof. Heribert Schunkert and Prof. Markus M. N?then for critical reading and discussion, and to Tobias Reinberger for providing Fig.?2. Thanks to the unknown reviewers for very constructive comments helping to improve the manuscript.
Research Areas and Centers
- Research Area: Medical Genetics
