Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.
- DOI
- 10.1126/sciadv.ady9895
- Published
- 2026 Apr 17
- Container
- Science advances
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1126/sciadv.ady9895,
title = {Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.},
author = {Wang R and Wang F and DeBruyne N and Ji X and Engelhardt NM and Park JJ and Notaro A and Gaerlan S and Park R and Schultz MJ and Clever S and McCormick EM and Keith K and Ng BG and Kadash-Edmondson KE and Freeze HH and Lam CT and Morava E and Helbig I and Falk MJ and Ganetzky RD and Edmondson AC and Lin L and Xing Y},
year = {2026},
journal = {Science advances},
doi = {10.1126/sciadv.ady9895},
url = {https://doi.org/10.1126/sciadv.ady9895}
}RIS
TY - JOUR TI - Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. AU - Wang R AU - Wang F AU - DeBruyne N AU - Ji X AU - Engelhardt NM AU - Park JJ AU - Notaro A AU - Gaerlan S AU - Park R AU - Schultz MJ AU - Clever S AU - McCormick EM AU - Keith K AU - Ng BG AU - Kadash-Edmondson KE AU - Freeze HH AU - Lam CT AU - Morava E AU - Helbig I AU - Falk MJ AU - Ganetzky RD AU - Edmondson AC AU - Lin L AU - Xing Y PY - 2026 JO - Science advances DO - 10.1126/sciadv.ady9895 UR - https://doi.org/10.1126/sciadv.ady9895 ER -
APA
R, W., F, W., N, D., X, J., NM, E., JJ, P., A, N., S, G., R, P., MJ, S., S, C., EM, M., K, K., BG, N., KE, K., HH, F., CT, L., E, M., I, H., MJ, F., RD, G., AC, E., L, L., & Y, X. (2026). Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.. Science advances. https://doi.org/10.1126/sciadv.ady9895
Source records
- pubmed · retrieved 2026-09-27T14:26:17.644Z
- europe-pmc · retrieved 2026-09-27T14:26:17.660Z