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13 results on '"Jiménez-Almazán, Jorge"'

3. VALIDATION OF AN INTEGRATED PGT-A STRATEGY FOR PARALLEL ASSESSMENT OF ANEUPLOIDY, PLOIDY LEVEL, AND PRESENCE OF MAJOR MICRODELETIONS IN A SINGLE TROPHECTODERM BIOPSY

Author

Capalbo, Antonio, Caroselli, Silvia, Miravet-Valenciano, Jose, Bau, Davide, Girardi, Laura, Figliuzzi, Matteo, Poli, Maurizio, Bernardini, Laura, Pompilii, Eva, Anastasi, Attilio, Capodanno, Francesco, Gallinelli, Andrea, Jimenez-Almazán, Jorge, Rubio, Carmen, Brancati, Francesco, Jarque, David Blesa, and Simón, Carlos

Published
2021
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6. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations

Author

Ibáñez, Mariam, primary, Carbonell-Caballero, José, additional, García-Alonso, Luz, additional, Such, Esperanza, additional, Jiménez-Almazán, Jorge, additional, Vidal, Enrique, additional, Barragán, Eva, additional, López-Pavía, María, additional, LLop, Marta, additional, Martín, Iván, additional, Gómez-Seguí, Inés, additional, Montesinos, Pau, additional, Sanz, Miguel A., additional, Dopazo, Joaquín, additional, and Cervera, José, additional

Published
2016
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8. A map of human microRNA variation uncovers unexpectedly high levels of variability

Author

Carbonell, José, Alloza, Eva, Arce, Pablo, Borrego, Salud, Santoyo-López, Javier, Ruiz-Ferrer, Macarena, Medina, Ignacio, Jiménez-Almazán, Jorge, Méndez-Vidal, Cristina, González-del Pozo, María, Vela, Alicia, Bhattacharya, Shom Shanker, Antiñolo, Guillermo, Dopazo, Joaquín, Carbonell, José, Alloza, Eva, Arce, Pablo, Borrego, Salud, Santoyo-López, Javier, Ruiz-Ferrer, Macarena, Medina, Ignacio, Jiménez-Almazán, Jorge, Méndez-Vidal, Cristina, González-del Pozo, María, Vela, Alicia, Bhattacharya, Shom Shanker, Antiñolo, Guillermo, and Dopazo, Joaquín

Abstract

Background MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few years, these regulatory elements have been shown to be involved in an increasing number and range of diseases. Consequently, the compilation of a comprehensive map of natural variability in a healthy population seems an obvious requirement for future research on miRNA-related pathologies. Methods Data on 14 populations from the 1000 Genomes Project were analyzed, along with new data extracted from 60 exomes of healthy individuals from a population from southern Spain, sequenced in the context of the Medical Genome Project, to derive an accurate map of miRNA variability. Results Despite the common belief that miRNAs are highly conserved elements, analysis of the sequences of the 1,152 individuals indicated that the observed level of variability is double what was expected. A total of 527 variants were found. Among these, 45 variants affected the recognition region of the corresponding miRNA and were found in 43 different miRNAs, 26 of which are known to be involved in 57 diseases. Different parts of the mature structure of the miRNA were affected to different degrees by variants, which suggests the existence of a selective pressure related to the relative functional impact of the change. Moreover, 41 variants showed a significant deviation from the Hardy-Weinberg equilibrium, which supports the existence of a selective process against some alleles. The average number of variants per individual in miRNAs was 28. Conclusions Despite an expectation that miRNAs would be highly conserved genomic elements, our study reports a level of variability comparable to that observed for coding genes.

Published
2012

9. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

Author

Tort, Frederic, primary, García-Silva, María Teresa, additional, Ferrer-Cortès, Xènia, additional, Navarro-Sastre, Aleix, additional, Garcia-Villoria, Judith, additional, Coll, Maria Josep, additional, Vidal, Enrique, additional, Jiménez-Almazán, Jorge, additional, Dopazo, Joaquín, additional, Briones, Paz, additional, Elpeleg, Orly, additional, and Ribes, Antonia, additional

Published
2013
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10. Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data

Author

Rueda, Antonio, primary, López, Francisco Javier, additional, Pérez, Javier, additional, Arce, Pablo, additional, Cruz, Luis Miguel, additional, Carbonell, José, additional, Jiménez-Almazán, Jorge, additional, Vidal, Enrique, additional, Antiñolo, Guillermo, additional, Dopazo, Joaquín, additional, and Santoyo, Javier, additional

Published
2013
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11. A map of human microRNA variation uncovers unexpectedly high levels of variability

Author

Carbonell, José, primary, Alloza, Eva, additional, Arce, Pablo, additional, Borrego, Salud, additional, Santoyo, Javier, additional, Ruiz-Ferrer, Macarena, additional, Medina, Ignacio, additional, Jiménez-Almazán, Jorge, additional, Méndez-Vidal, Cristina, additional, González-del Pozo, María, additional, Vela, Alicia, additional, Bhattacharya, Shomi S, additional, Antiñolo, Guillermo, additional, and Dopazo, Joaquín, additional

Published
2012
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13. Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.

Author

Martin, Julio, Asan, null, Yi, Yuting, Alberola, Trinidad, Rodríguez-Iglesias, Beatriz, Jiménez-Almazán, Jorge, Li, Qin, Du, Huiqian, Alama, Pilar, Ruiz, Amparo, Bosch, Ernesto, Garrido, Nicolas, Simon, Carlos, and Asan

Subjects
*GENETIC testing, *NUCLEOTIDE sequencing, *INFERTILITY, *REPRODUCTIVE technology, *GAMETES, *GENETIC mutation, *X chromosome, *INFERTILITY treatment, *COMPARATIVE studies, *DISEASE susceptibility, *GENETIC counseling, *GENETIC techniques, *HUMAN reproductive technology, *RESEARCH methodology, *MEDICAL cooperation, *X-linked genetic disorders, *PRECONCEPTION care, *PREIMPLANTATION genetic diagnosis, *RESEARCH, *PHENOTYPES, *EVALUATION research, *PREDICTIVE tests, *RETROSPECTIVE studies, *GENETIC carriers, *SEQUENCE analysis, *DIAGNOSIS, RESEARCH evaluation
Abstract

Objective: To develop an expanded pan-ethnic preconception carrier genetic screening test for use in assisted reproductive technology (ART) patients and donors.Design: Retrospective analysis of results obtained from 2,570 analyses.Setting: Reproductive genetic laboratory.Patient(s): The 2,570 samples comprised 1,170 individuals from the gamete donor programs; 1,124 individuals corresponding to the partner of the patient receiving the donated gamete; and 276 individuals from 138 couples seeking ART using their own gametes.Intervention(s): None.Main Outcome Measure(s): Next-generation sequencing of 549 recessive and X-linked genes involved in severe childhood phenotypes reinforced with five complementary tests covering high prevalent mutations not detected by next-generation sequencing.Result(s): Preclinical validation included 48 DNA samples carrying known mutations for 27 genes, resulting in a sensitivity of 99%. In the clinical dataset, 2,161 samples (84%) tested positive, with an average carrier burden of 2.3 per sample. Five percent of the couples using their own gametes were found to have pathogenic variants conferring high risk for six different diseases. These high-risk couples and patients received genetic counseling and recommendations for preimplantation genetic diagnosis. For patients receiving gamete donation, we applied a genetic testing and blinded matching system to avoid high-risk combinations regardless of their carrier burden. For female donors, 1.94% were positive for X-linked conditions; they received genetic counselling and were discarded.Conclusion(s): We have developed a comprehensive carrier genetic screening test that, combined with our matching system and genetic counseling, constitutes a powerful tool to avoid more than 600 mendelian diseases in the offspring of patients undergoing ART. [ABSTRACT FROM AUTHOR]

Published
2015
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