Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis. (2021)
Attributed to:
UK Infrastructure for Large-scale Clinical Genomics Research
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1038/s41436-021-01297-5
PubMed Identifier: 34429528
Publication URI: http://europepmc.org/abstract/MED/34429528
Type: Journal Article/Review
Volume: 23
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 12
ISSN: 1098-3600