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Lopez J, Coll J, Haimel M, et al. HGVA: the Human Genome Variation Archive. Nucleic Acids Res. 2017;45(W1):W189-W194. doi:10.1093/nar/gkx445.
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.
López-López D, Loucera C, Carmona R, et al. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
López-López D, Roldán G, Fernandez-Rueda JL, et al. A crowdsourcing database for the copy-number variation of the Spanish population. Hum Genomics. 2023;17(1):20. doi:10.1186/s40246-023-00466-8.
López-Sánchez M, Loucera C, Peña-Chilet M, Dopazo J. Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac007.
Lorente-Galdos B, Medina I, Morcillo-Suarez C, et al. Select your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs. International journal of data mining and bioinformatics. 2012;6:324-34. Available at: http://inderscience.metapress.com/content/f76740x8071u513n/.
Loucera C, Peña-Chilet M, Esteban-Medina M, et al. Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients. Sci Rep. 2021;11(1):23380. doi:10.1038/s41598-021-02701-5.
Loucera C, Esteban-Medina M, Rian K, Falco MM, Dopazo J, Peña-Chilet M. Drug repurposing for COVID-19 using machine learning and mechanistic models of signal transduction circuits related to SARS-CoV-2 infection. Signal Transduct Target Ther. 2020;5(1):290. doi:10.1038/s41392-020-00417-y.
Loucera C, Carmona R, Bostelmann G, et al. Evidence of the association between increased use of direct oral anticoagulants and a reduction in the rate of atrial fibrillation-related stroke and major bleeding at the population level (2012-2019). Med Clin (Barc). 2023. doi:10.1016/j.medcli.2023.10.008.
Loucera C, Perez-Florido J, Casimiro-Soriguer CS, et al. Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival. Viruses. 2022;14(9). doi:10.3390/v14091893.
Loucera C, Carmona R, Esteban-Medina M, et al. Real-world evidence with a retrospective cohort of 15,968 COVID-19 hospitalized patients suggests 21 new effective treatments. Virol J. 2023;20(1):226. doi:10.1186/s12985-023-02195-9.
Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
Lüke L, Vicens A, Serra F, et al. Sexual selection halts the relaxation of protamine 2 among rodents. PloS one. 2011;6:e29247. doi:10.1371/journal.pone.0029247.
Lupo V, Garcia-Garcia F, Sancho P, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Luque J, Mendes I, Gómez B, et al. CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative. Clin Genet. 2022. doi:10.1111/cge.14113.
Luzón-Toro B, Bleda M, Navarro E, et al. Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC medical genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.
Luzón-Toro B, Bleda M, Navarro E, et al. Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC Medical Genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
M
Madhusudhan MS, Webb BM, Marti-Renom MA, Eswar N, Sali A. Alignment of multiple protein structures based on sequence and structure features. Protein engineering, design & selection : PEDS. 2009;22:569-74.
Madhusudhan MS, Marti-Renom MA, Sanchez R, Sali A. Variable gap penalty for protein sequence-structure alignment. Protein Eng Des Sel. 2006;19:129-33. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16423846.
Mammoliti A, Smirnov P, Nakano M, et al. Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.
The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nature Biotechnology. 2010;28(8):827 - 838. doi:10.1038/nbt.1665.
Marigorta UM, Lao O, Casals F, et al. Recent human evolution has shaped geographical differences in susceptibility to disease. BMC genomics. 2011;12:55.
Maroñas O, Latorre A, Dopazo J, et al. Progress in pharmacogenetics: consortiums and new strategies. Drug Metab Pers Ther. 2016;31(1):17-23. doi:10.1515/dmpt-2015-0039.