Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Perez-Riverol, Siobhan Loughna, Allan Daly, Pavlos Antoniou, Philipp Hofmann, Amilcar Perez-Riverol, Anne-Karin Kahlert, Ulrike Bauer, Thomas Pickardt, Sabine Klaassen, Felix Berger, Ingo Daehnert, Sven Dittri · 2026
Read Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study by Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Perez-Riverol, Siobhan Loughna, Allan Daly, Pavlos Antoniou, Philipp Hofmann, Amilcar Perez-Riverol, Anne-Karin Kahlert, Ulrike Bauer, Thomas Pickardt, Sabine Klaassen, Felix Berger, Ingo Daehnert, Sven Dittri (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/pmc-13230774.txt.
Description
Enrique Audain and colleagues search in 2026 for rare gene variants that raise the risk of heart defects present at birth. Exome data covered nearly five thousand affected people and more than fifty thousand controls. The team looked for damaging changes in single genes that reached strict statistical thresholds.
Fourteen genes passed the bar for loss-of-function or missense variants tied to these defects. Ten were already linked to heart defects, while four had not reached this level of evidence before. Patterns differed between defects that occur alone and those that come with other body or learning problems. Adding gene activity data from early human hearts pointed to nerve crest and vessel lining cells as key sites.
Catalog record
| CREATOR | Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Perez-Riverol, Siobhan Loughna, Allan Daly, Pavlos Antoniou, Philipp Hofmann, Amilcar Perez-Riverol, Anne-Karin Kahlert, Ulrike Bauer, Thomas Pickardt, Sabine Klaassen, Felix Berger, Ingo Daehnert, Sven Dittri |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 45 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |