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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.
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 May 23. doi: 10.1038/s41380-024-02588-4. Online ahead of print. Mol Psychiatry. 2024. PMID: 38783055
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.
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. PMID: 36994150 Free PMC article. Updated. Preprint.
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH; PCAWG Structural Variation Working Group; Campbell PJ, Tubio JMC; PCAWG Consortium. Rodriguez-Martin B, et al. Nat Genet. 2023 Jun;55(6):1080. doi: 10.1038/s41588-023-01319-9. Nat Genet. 2023. PMID: 36944736 Free PMC article. No abstract available.
135 results