Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Tooze RS., Hyder Z., Calpena E., Pei Y., Twigg SRF., Cilliers D., Morton JEV., McCann E., Weber A., Wilson LC., Need A., Bond A., Tavares ALT., Brittain H., Thomas E., Hill SL., Deans ZC., Boardman-Pretty F., Caulfield M., Scott RH., Wilkie AOM., Consortium GER.

Type

Conference paper

Publication Date

04/2022

Volume

30

Pages

51 - 52

Permalink