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pro vyhledávání: '"Sullivan, Patricia J."'
Publikováno v:
In The American Journal of Human Genetics 3 October 2024 111(10):2164-2175
Autor:
Staunton, Jordan, Ajuyah, Pamela, Harris, Angela, Mayoh, Chelsea, Wong, Marie, Rumford, Megan, Sullivan, Patricia J., Ekert, Paul G., Fuentes-Bolanos, Noemi, Cowley, Mark J., Lau, Loretta M. S., Ziegler, David S., Barahona, Paulette, Manoharan, Neevika
Publikováno v:
NPJ Precision Oncology; 10/19/2024, Vol. 8 Issue 1, p1-7, 7p
Akademický článek
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Autor:
Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, Cowley, Mark J.
Additional file 3. Review History.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d8ad98ebe89edfa4b74bdb8d916bb59
Autor:
Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, Cowley, Mark J.
Additional file 2: Figure S1. Comparison of in silico splice-prediction tools on validated non-splice-altering variants. Using an UpSet plot, variants identified here by one or more tools are in silico false positives. The CADD and CADD-splice tools
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0998f808dc310e231876f6801f2e2979
Autor:
SULLIVAN, PATRICIA J.
Publikováno v:
Michigan Bar Journal; Feb2018, Vol. 97 Issue 2, p20-23, 4p
Publikováno v:
Journal of Chemical Physics; Aug1968, Vol. 49 Issue 3, p1445-1446, 2p
Autor:
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to use for ea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a880e36db91df6c12022443cf14a19ff
https://hdl.handle.net/11541.2/34340
https://hdl.handle.net/11541.2/34340