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Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MTW, Shumate A, Li H, Chin CS, Zook JM, Sedlazeck FJ. Wagner J, et al. Nat Biotechnol. 2022 May;40(5):672-680. doi: 10.1038/s41587-021-01158-1. Epub 2022 Feb 7. Nat Biotechnol. 2022. PMID: 35132260 Free PMC article.
Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands.
Fregel R, Ordóñez AC, Santana-Cabrera J, Cabrera VM, Velasco-Vázquez J, Alberto V, Moreno-Benítez MA, Delgado-Darias T, Rodríguez-Rodríguez A, Hernández JC, Pais J, González-Montelongo R, Lorenzo-Salazar JM, Flores C, Cruz-de-Mercadal MC, Álvarez-Rodríguez N, Shapiro B, Arnay M, Bustamante CD. Fregel R, et al. PLoS One. 2019 Mar 20;14(3):e0209125. doi: 10.1371/journal.pone.0209125. eCollection 2019. PLoS One. 2019. PMID: 30893316 Free PMC article.
Admixture mapping of asthma in southwestern Europeans with North African ancestry influences.
Guillen-Guio B, Hernández-Beeftink T, Marcelino-Rodríguez I, Rodríguez-Pérez H, Lorenzo-Salazar JM, Espinilla-Peña M, Corrales A, Pino-Yanes M, Callero A, Perez-Rodriguez E, Villar J, González-Montelongo R, Flores C. Guillen-Guio B, et al. Am J Physiol Lung Cell Mol Physiol. 2020 May 1;318(5):L965-L975. doi: 10.1152/ajplung.00344.2019. Epub 2020 Mar 18. Am J Physiol Lung Cell Mol Physiol. 2020. PMID: 32186396 Free article.
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
Mendoza-Alvarez A, Muñoz-Barrera A, Rubio-Rodríguez LA, Marcelino-Rodriguez I, Corrales A, Iñigo-Campos A, Callero A, Perez-Rodriguez E, Garcia-Robaina JC, González-Montelongo R, Lorenzo-Salazar JM, Flores C. Mendoza-Alvarez A, et al. J Med Internet Res. 2020 Oct 9;22(10):e19040. doi: 10.2196/19040. J Med Internet Res. 2020. PMID: 33034563 Free PMC article.
Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale.
Díaz-de Usera A, Lorenzo-Salazar JM, Rubio-Rodríguez LA, Muñoz-Barrera A, Guillen-Guio B, Marcelino-Rodríguez I, García-Olivares V, Mendoza-Alvarez A, Corrales A, Íñigo-Campos A, González-Montelongo R, Flores C. Díaz-de Usera A, et al. J Clin Med. 2020 Nov 13;9(11):3656. doi: 10.3390/jcm9113656. J Clin Med. 2020. PMID: 33202991 Free PMC article.
Complete mitogenome in a population sample from Cameroon.
Olaechea-Lázaro S, García Ó, González-Montelongo R, Lorenzo-Salazar JM, Flores C, López S, Veeramah KR, Hellenthal G, Thomas MG, Alonso S. Olaechea-Lázaro S, et al. Forensic Sci Int Genet. 2021 Nov;55:102597. doi: 10.1016/j.fsigen.2021.102597. Epub 2021 Sep 15. Forensic Sci Int Genet. 2021. PMID: 34560341 Free article. No abstract available.
49 results