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Page 1
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6.
Genome Biol. 2024.
PMID: 38389099
Free PMC article.
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.
Aguirre J, Padilla N, Özkan S, Riera C, Feliubadaló L, de la Cruz X.
Aguirre J, et al. Among authors: ozkan s.
Int J Mol Sci. 2023 Jul 24;24(14):11872. doi: 10.3390/ijms241411872.
Int J Mol Sci. 2023.
PMID: 37511631
Free PMC article.
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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium.
Cline MS, et al. Among authors: ozkan s.
Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23.
Hum Mutat. 2019.
PMID: 31294896
Free PMC article.
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BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X.
Padilla N, et al. Among authors: ozkan s.
Hum Mutat. 2019 Sep;40(9):1593-1611. doi: 10.1002/humu.23802. Epub 2019 Jul 3.
Hum Mutat. 2019.
PMID: 31112341
Free PMC article.
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Polygenic analysis suggests the involvement of calcium signaling in executive function in schizophrenia patients.
Kirchner SK, Ozkan S, Musil R, Spellmann I, Kannayian N, Falkai P, Rossner M, Papiol S.
Kirchner SK, et al. Among authors: ozkan s.
Eur Arch Psychiatry Clin Neurosci. 2020 Jun;270(4):425-431. doi: 10.1007/s00406-018-0961-8. Epub 2018 Dec 7.
Eur Arch Psychiatry Clin Neurosci. 2020.
PMID: 30523404
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Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S, Padilla N, de la Cruz X.
Özkan S, et al.
Int J Mol Sci. 2021 Jun 9;22(12):6226. doi: 10.3390/ijms22126226.
Int J Mol Sci. 2021.
PMID: 34207612
Free PMC article.
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