Our analysis and methodology are supported by publications in the most prestigious international journals.
• Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene. Diñeiro et al. European Journal of Human Genetics.
• Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice. Bárcena et al. Blood.
• Computational de-orphanization of the olive oil biophenol oleacein: Discovery of new metabolic and epigenetic targets. Cuyás et al. Food and Chemical Toxicology.
• New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth. Rey et al. Journal of Clinical Medicine.
• CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1− mantle cell lymphoma. Martín-García et al. Blood.
• Comprenhensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. Cabanillas et al. BCM Medical Genomics.
• A novel molecular diagnostics platform for somatic and germline precision oncology. Cabanillas et al. Mol Genet Genomic Med.
• A Next-generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma. Jiménez et al. J Mol Diagn.
• Application of a molecular diagnostic algorithm for haemophilia A and B using Next-generation Sequencing of entire F8, F9 and VWF genes. Bastida et al. Thromb Haemost.
• POT1 loss-of-function variants predispose to familial melanoma. Robles-Espinosa el al. Nat Genet.
• Identification of novel tumor suppressor proteases by degradome profiling of colorectal carninomas. Fraile et al. Oncotarget.
• POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Ramsay et al. Nat Genet.
• Estimation of copy number alterations from exome sequencing data. Valdés-Más et al. PLoS One.
• Whole-genome sequencing identifies recurrent mutations in chronic lymphocituc leukaemia. Puente et al. Nature.
• Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Puente et al. Am J Hum Genet.