Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

Jobanputra, V., Schroeder, B., Rehm, H. L., Shen, W., Spiteri, E., Nakouzi, G., Taylor, S., Marshall, C. R., Meng, L., Kingsmore, S. F., Ellsworth, K., Ashley, E., & Taft, R. J. (2024). Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action. Npj Genomic Medicine, 9(1). https://doi.org/10.1038/s41525-024-00410-2

Authors:

Vaidehi Jobanputra

Brock Schroeder

Heidi L Rehm

Wei Shen

Elizabeth Spiteri

Ghunwa Nakouzi

Stacie Taylor

Christian R Marshall

Linyan Meng

Stephen F Kingsmore

Katarzyna Ellsworth