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Page 1
Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients.
Patel JN, Morris SA, Torres R, Rhead B, Vlangos C, Mueller DJ, Brown LC, Lefkofsky H, Ali M, De La Vega FM, Barnes KC, Zoghbi A, Stanton JD, Badgeley MA. Patel JN, et al. Among authors: de la vega fm. Mol Psychiatry. 2024 Nov;29(11):3495-3502. doi: 10.1038/s41380-024-02588-4. Epub 2024 May 23. Mol Psychiatry. 2024. PMID: 38783055 Free PMC article.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
The status of the human gene catalogue.
Amaral P, Carbonell-Sala S, De La Vega FM, Faial T, Frankish A, Gingeras T, Guigo R, Harrow JL, Hatzigeorgiou AG, Johnson R, Murphy TD, Pertea M, Pruitt KD, Pujar S, Takahashi H, Ulitsky I, Varabyou A, Wells CA, Yandell M, Carninci P, Salzberg SL. Amaral P, et al. Among authors: de la vega fm. Nature. 2023 Oct;622(7981):41-47. doi: 10.1038/s41586-023-06490-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794265 Free PMC article. Review.
A deep-learning-based RNA-seq germline variant caller.
Cook DE, Venkat A, Yelizarov D, Pouliot Y, Chang PC, Carroll A, De La Vega FM. Cook DE, et al. Among authors: de la vega fm. Bioinform Adv. 2023 Jun 13;3(1):vbad062. doi: 10.1093/bioadv/vbad062. eCollection 2023. Bioinform Adv. 2023. PMID: 37416509 Free PMC article.
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M, Bell JSK, Wenric S, Karaesmen E, Rhead B, Kase M, Kaneva K, De La Vega FM, Zheng Y, Yoshimatsu TF, Khramtsova G, Liu F, Zhao F, Howard FM, Nanda R, Beaubier N, White KP, Huo D, Olopade OI. Miyashita M, et al. Among authors: de la vega fm. Breast Cancer Res. 2023 May 25;25(1):58. doi: 10.1186/s13058-023-01627-2. Breast Cancer Res. 2023. PMID: 37231433 Free PMC article.
The status of the human gene catalogue.
Amaral P, Carbonell-Sala S, De La Vega FM, Faial T, Frankish A, Gingeras T, Guigo R, Harrow JL, Hatzigeorgiou AG, Johnson R, Murphy TD, Pertea M, Pruitt KD, Pujar S, Takahashi H, Ulitsky I, Varabyou A, Wells CA, Yandell M, Carninci P, Salzberg SL. Amaral P, et al. Among authors: de la vega fm. ArXiv [Preprint]. 2023 Mar 24:arXiv:2303.13996v1. ArXiv. 2023. Update in: Nature. 2023 Oct;622(7981):41-47. doi: 10.1038/s41586-023-06490-x PMID: 36994150 Free PMC article. Updated. Preprint.
137 results