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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Valls-Margarit J, Galván-Femenía I, Matías-Sánchez D, Blay N, Puiggròs M, Carreras A, Salvoro C, Cortés B, Amela R, Farre X, Lerga-Jaso J, Puig M, Sánchez-Herrero JF, Moreno V, Perucho M, Sumoy L, Armengol L, Delaneau O, Cáceres M, de Cid R, Torrents D. Valls-Margarit J, et al. Among authors: torrents d. Nucleic Acids Res. 2022 Mar 21;50(5):2464-2479. doi: 10.1093/nar/gkac076. Nucleic Acids Res. 2022. PMID: 35176773 Free PMC article.
Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.
Mercader JM, Puiggros M, Segrè AV, Planet E, Sorianello E, Sebastian D, Rodriguez-Cuenca S, Ribas V, Bonàs-Guarch S, Draghici S, Yang C, Mora S, Vidal-Puig A, Dupuis J; DIAGRAM Consortium; Florez JC; MITIN Consortium; Zorzano A, Torrents D. Mercader JM, et al. Among authors: torrents d. PLoS Genet. 2012;8(12):e1003046. doi: 10.1371/journal.pgen.1003046. Epub 2012 Dec 6. PLoS Genet. 2012. PMID: 23236286 Free PMC article.
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads.
Moncunill V, Gonzalez S, Beà S, Andrieux LO, Salaverria I, Royo C, Martinez L, Puiggròs M, Segura-Wang M, Stütz AM, Navarro A, Royo R, Gelpí JL, Gut IG, López-Otín C, Orozco M, Korbel JO, Campo E, Puente XS, Torrents D. Moncunill V, et al. Among authors: torrents d. Nat Biotechnol. 2014 Nov;32(11):1106-12. doi: 10.1038/nbt.3027. Epub 2014 Oct 26. Nat Biotechnol. 2014. PMID: 25344728
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
Galván-Femenía I, Obón-Santacana M, Piñeyro D, Guindo-Martinez M, Duran X, Carreras A, Pluvinet R, Velasco J, Ramos L, Aussó S, Mercader JM, Puig L, Perucho M, Torrents D, Moreno V, Sumoy L, de Cid R. Galván-Femenía I, et al. Among authors: torrents d. J Med Genet. 2018 Nov;55(11):765-778. doi: 10.1136/jmedgenet-2018-105437. Epub 2018 Aug 30. J Med Genet. 2018. PMID: 30166351 Free PMC article.
Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2.
Galván-Femenía I, Guindo M, Duran X, Calabuig-Fariñas S, Mercader JM, Ramirez JL, Rosell R, Torrents D, Carreras A, Kohno T, Jantus-Lewintre E, Camps C, Perucho M, Sumoy L, Yokota J, de Cid R. Galván-Femenía I, et al. Among authors: torrents d. Cancer Treat Res Commun. 2018;15:21-31. doi: 10.1016/j.ctarc.2018.02.003. Epub 2018 Mar 1. Cancer Treat Res Commun. 2018. PMID: 30207284 Free article.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. Nat Commun. 2020. PMID: 32958763 Free PMC article.
154 results