Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. (2023)

First Author: Pagnamenta AT
Attributed to:  Disease mechanisms and therapy for inherited disorders of the neuromuscular synapse. 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