Predicting the impact of rare variants on RNA splicing in CAGI6.

Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D

Open source

DOI: 10.1007/s00439-023-02624-3
Published: 2025 Mar
Container: Human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1007/s00439-023-02624-3,
  title = {Predicting the impact of rare variants on RNA splicing in CAGI6.},
  author = {Lord J and Oquendo CJ and Wai HA and Douglas AGL and Bunyan DJ and Wang Y and Hu Z and Zeng Z and Danis D and Katsonis P and Williams A and Lichtarge O and Chang Y and Bagnall RD and Mount SM and Matthiasardottir B and Lin C and Hansen TVO and Leman R and Martins A and Houdayer C and Krieger S and Bakolitsa C and Peng Y and Kamandula A and Radivojac P and Baralle D},
  year = {2025},
  journal = {Human genetics},
  doi = {10.1007/s00439-023-02624-3},
  url = {https://doi.org/10.1007/s00439-023-02624-3}
}

RIS

TY  - JOUR
TI  - Predicting the impact of rare variants on RNA splicing in CAGI6.
AU  - Lord J
AU  - Oquendo CJ
AU  - Wai HA
AU  - Douglas AGL
AU  - Bunyan DJ
AU  - Wang Y
AU  - Hu Z
AU  - Zeng Z
AU  - Danis D
AU  - Katsonis P
AU  - Williams A
AU  - Lichtarge O
AU  - Chang Y
AU  - Bagnall RD
AU  - Mount SM
AU  - Matthiasardottir B
AU  - Lin C
AU  - Hansen TVO
AU  - Leman R
AU  - Martins A
AU  - Houdayer C
AU  - Krieger S
AU  - Bakolitsa C
AU  - Peng Y
AU  - Kamandula A
AU  - Radivojac P
AU  - Baralle D
PY  - 2025
JO  - Human genetics
DO  - 10.1007/s00439-023-02624-3
UR  - https://doi.org/10.1007/s00439-023-02624-3
ER  -

APA

J, L., CJ, O., HA, W., AGL, D., DJ, B., Y, W., Z, H., Z, Z., D, D., P, K., A, W., O, L., Y, C., RD, B., SM, M., B, M., C, L., TVO, H., R, L., A, M., C, H., S, K., C, B., Y, P., A, K., P, R., & D, B. (2025). Predicting the impact of rare variants on RNA splicing in CAGI6.. Human genetics. https://doi.org/10.1007/s00439-023-02624-3

Source records

pubmed · retrieved 2026-09-26T15:52:47.230Z
europe-pmc · retrieved 2026-09-26T15:52:47.230Z
hal · retrieved 2026-09-26T15:52:47.255Z