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

Genetics in Medicine, Published online: 25 August 2021; doi:10.1038/s41436-021-01297-5Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Source: Genetics in Medicine - August 25, 2021 Category: Genetics & Stem Cells Authors: Zerin Hyder Eduardo Calpena Yang Pei Rebecca S. Tooze Helen Brittain Stephen R. F. Twigg Deirdre Cilliers Jenny E. V. Morton Emma McCann Astrid Weber Louise C. Wilson Andrew G. L. Douglas Ruth McGowan Anna Need Andrew Bond Ana Lisa Taylor Tavares Ellen R. Source Type: research