📣 Try out the NEW Gateway to Research and let us know what you think.

We're looking for users to test the new service during August and September and share their feedback. Express your interest by completing this short form.

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