Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport, Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson‐Dupuis, Jacinta C. Bustamante, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen‐Ying Zhang, Joseph G. Gleeson, Lluís Quintana‐Murci, Jean‐Laurent Casanova, Laurent Abel, Étienne Patin
The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.
Proceedings of the National Academy of Sciences · Jan 6, 2021Peer-reviewedGenetics