Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

Greer, S. U., Botello, J., Hongo, D., Levy, B., Shah, P., Rabinowitz, M., Miller, D. E., Im, K., & Kumar, A. (2023). Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic. Journal of Translational Medicine, 21(1). https://doi.org/10.1186/s12967-023-04243-y
Authors:
Stephanie U. Greer
Jacquelin Botello
Donna Hongo
Brynn Levy
Premal Shah
Matthew Rabinowitz
Danny E. Miller
Kate Im
Akash Kumar
Affiliated Authors:
Brynn Levy
Columbia Affiliation:
Subjects:
Nanopore Sequencing (MeSH)
Author Keywords:
adaptive sampling
clinical testing
copy number variants
genome analysis
long-read sequencing
neurodevelopmental disorders
oxford nanopore technologies
targeted sequencing
elink
Publication Type:
Article
Unique ID:
10.1186/s12967-023-04243-y
PMID:
37301971
DOI:
10.1186/s12967-023-04243-y
Journal:
Journal of Translational Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record

Record Created: