Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis. (2021)

First Author: Hyder Z
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