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.

Type

Conference paper

Publication Date

2022

Volume

30

Pages

51 - 52

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