Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. (2023)
Attributed to:
Congenital Anomalies - Patient-led Functional Genomics
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1186/s13073-023-01240-0
PubMed Identifier: 37946251
Publication URI: http://europepmc.org/abstract/MED/37946251
Type: Journal Article/Review
Volume: 15
Parent Publication: Genome medicine
Issue: 1
ISSN: 1756-994X