A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
- DOI
- 10.17863/cam.86931
- Published
- 2022
- Container
- Not recorded
- Publisher
- Apollo - University of Cambridge Repository
- Open access
- no
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Cite this work
BibTeX
@article{allodium:10.17863/cam.86931,
title = {A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.},
author = {Blakes, Alexander JM and Wai, Htoo A and Davies, Ian and Moledina, Hassan E and Ruiz, April and Thomas, Tessy and Bunyan, David and Thomas, N Simon and Burren, Christine P and Greenhalgh, Lynn and Lees, Melissa and Pichini, Amanda and Smithson, Sarah F and Taylor Tavares, Ana Lisa and O'Donovan, Peter and Douglas, Andrew GL and Genomics England Research Consortium, Splicing and Whiffin, Nicola and Baralle, Diana and Lord, Jenny},
year = {2022},
doi = {10.17863/cam.86931},
url = {https://doi.org/10.17863/cam.86931}
}RIS
TY - JOUR TI - A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. AU - Blakes, Alexander JM AU - Wai, Htoo A AU - Davies, Ian AU - Moledina, Hassan E AU - Ruiz, April AU - Thomas, Tessy AU - Bunyan, David AU - Thomas, N Simon AU - Burren, Christine P AU - Greenhalgh, Lynn AU - Lees, Melissa AU - Pichini, Amanda AU - Smithson, Sarah F AU - Taylor Tavares, Ana Lisa AU - O'Donovan, Peter AU - Douglas, Andrew GL AU - Genomics England Research Consortium, Splicing AU - Whiffin, Nicola AU - Baralle, Diana AU - Lord, Jenny PY - 2022 DO - 10.17863/cam.86931 UR - https://doi.org/10.17863/cam.86931 ER -
APA
JM, B. A., A, W. H., Ian, D., E, M. H., April, R., Tessy, T., David, B., Simon, T. N., P, B. C., Lynn, G., Melissa, L., Amanda, P., F, S. S., Lisa, T. T. A., Peter, O., GL, D. A., Splicing, G. E. R. C., Nicola, W., Diana, B., & Jenny, L. (2022). A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.. https://doi.org/10.17863/cam.86931
Source records
- datacite · retrieved 2026-09-27T00:13:08.753Z