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

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

Bibliographic Details
Main Authors: 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
Format: Conference item
Language:English
Published: Springer Nature 2022
Description
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