Chundru, V. Kartik https://orcid.org/0000-0002-6348-5565
Zhang, Zhancheng
Walter, Klaudia https://orcid.org/0000-0003-4448-0301
Lindsay, Sarah J. https://orcid.org/0000-0002-0965-3070
Danecek, Petr
Eberhardt, Ruth Y. https://orcid.org/0000-0001-6152-1369
Gardner, Eugene J. https://orcid.org/0000-0001-9671-1533
Malawsky, Daniel S.
Wigdor, Emilie M.
Torene, Rebecca https://orcid.org/0000-0002-4370-3625
Retterer, Kyle
Wright, Caroline F. https://orcid.org/0000-0003-2958-5076
Ólafsdóttir, Hildur
Guillen Sacoto, Maria J.
Ayaz, Akif
Akbeyaz, Ismail Hakki
Türkdoğan, Dilşad
Al Balushi, Aaisha Ibrahim
Bertoli-Avella, Aida https://orcid.org/0000-0001-9544-1877
Bauer, Peter
Szenker-Ravi, Emmanuelle https://orcid.org/0000-0003-4839-737X
Reversade, Bruno https://orcid.org/0000-0002-4070-7997
McWalter, Kirsty https://orcid.org/0000-0002-1654-9036
Sheridan, Eamonn
Firth, Helen V.
Hurles, Matthew E. https://orcid.org/0000-0002-2333-7015
Samocha, Kaitlin E. https://orcid.org/0000-0002-1704-3352
Ustach, Vincent D. https://orcid.org/0000-0001-8299-3998
Martin, Hilary C. https://orcid.org/0000-0002-4454-9084
Article History
Received: 24 July 2023
Accepted: 14 August 2024
First Online: 23 September 2024
Competing interests
: K.M., M.J.G.S., H.O. and V.D.U. are employees of GeneDx. Z.Z., K.R. and R.T. were formerly employees of GeneDx and K.R. and R.T. are now employees of Geisinger Health System. A.B.A. and P.B. are employees of CENTOGENE. E.J.G. is an employee of and holds shares in Adrestia Therapeutics. K.E.S. has received support from Microsoft for work related to rare disease diagnostics. M.E.H. is a co-founder of, consultant to and holds shares in Congenica, a genetics diagnostic company. All other authors declare no conflicts of interest.