Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Alicia Vela-Boza"'
1
Akademický článek
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Autor: Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, Jose Manuel Gonzalez, Electra Tapanari, Jonathan M. Mudge, Charles A. Steward, Laurens Wilming, Andrea Tanzer, Cédric Howald, Jacqueline Chrast, Alicia Vela-Boza, Antonio Rueda, Francisco J. Lopez-Domingo, Joaquin Dopazo, Alexandre Reymond, Roderic Guigó, Jennifer Harrow
Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Long non-coding RNAs are increasingly recognised to be important factors in regulating cellular processes and comprise a large faction of the transcriptome, however most are uncharacterised. Here the authors present RACE-Seq, a tool to improve and ex
Externí odkaz: https://doaj.org/article/4bde9d48e3b14a859a3989164764bb06
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2
Akademický článek
The role of the interactome in the maintenance of deleterious variability in human populations
Autor: Luz Garcia‐Alonso, Jorge Jiménez‐Almazán, Jose Carbonell‐Caballero, Alicia Vela‐Boza, Javier Santoyo‐López, Guillermo Antiñolo, Joaquin Dopazo
Publikováno v: Molecular Systems Biology, Vol 10, Iss 9, Pp 1-18 (2014)
Abstract Recent genomic projects have revealed the existence of an unexpectedly large amount of deleterious variability in the human genome. Several hypotheses have been proposed to explain such an apparently high mutational load. However, the mechan
Externí odkaz: https://doaj.org/article/0aa3068e96ee438b8a85b370a6acd041
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3
Akademický článek
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
Autor: María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo
Publikováno v: PLoS ONE, Vol 9, Iss 12, p e116176 (2014)
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible m
Externí odkaz: https://doaj.org/article/326e78cc72d54add9da2f2bb15cfb5cf
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4
A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium
Autor: Jan Hellemans, Hans Binder, Jean Thierry-Mieg, Joshua Xu, Djork-Arné Clevert, Peter Sykacek, Matthias Fischer, Youping Deng, Samir Lababidi, Ryan Peters, Hanlin Gao, Craig A. Praul, Meihua Gong, Jo Vandesompele, Haiqing Li, Wei Wang, Joaquín Dopazo, Shawn Levy, Yang Liao, John Zhang, Lee Thomas Szkotnicki, Paul Zumbo, Huixiao Hong, Weida Tong, Quan Zhen Li, E. Aubrey Thompson, Jennifer G. Catalano, Danielle Thierry-Mieg, Binsheng Gong, Wenwei Zhang, Wendell D. Jones, Min Jian, Dalila B. Megherbi, Lucille Rainbow, Robert Setterquist, Peng Li, Hong Fang, Javier Pérez-Florido, Xin Lu, Chen Zhao, Stephen J. Walker, Tao Qing, Marco Chierici, Yiming Zhou, Joseph Meehan, Christopher E. Mason, Eric D. Wieben, Mehdi Pirooznia, Liqing Wan, Bimeng Tu, Stan Letovsky, James C. Fuscoe, Sepp Hochreiter, Yoichi Gondo, Alicia Vela-Boza, Bridgett Green, Li Li, Zirui Dong, Weimin Cai, Geng Chen, Pedro Furió-Tarí, Andreas Scherer, Zhenqiang Su, Scott Schwartz, Charles Wang, Frank Staedtler, Jian Wang, Wenzhong Xiao, Yong Yang, Murray H. Brilliant, Wei Shi, Scott S. Auerbach, Matthew Tinning, Yongxiang Fang, Tingting Du, Meiwen Jia, Jiekun Xuan, Shiyong Li, Yan Li, Ying Yu, Adnan Derti, Ruchir R. Shah, Nadereh Jafari, Nancy Stralis-Pavese, Edward J. Oakeley, Jinhui Wang, Pierre R. Bushel, Jun Wang, Simon Lin, Joost H.M. van Delft, Francisco Javier López, Weigong Ge, Huan Gao, James C. Willey, Roger Perkins, Xin Xing Tan, Viswanath Devanarayan, Laure Sambourg, Zhiyu Peng, Po Yen Wu, Jianying Li, Philippe Rocca-Serra, Javier Santoyo-Lopez, Paweł P. Łabaj, David P. Kreil, Elia Stupka, John H. Phan, Heng Luo, Gary P. Schroth, Roderick V. Jensen, Thomas M. Blomquist, Russell D. Wolfinger, John F. Thompson, Wenqian Zhang, Nan Mei, Suzanne Kay, May D. Wang, Tzu Ming Chu, Jie Shen, Jiri Zavadil, Weihong Xu, Wenjun Bao, Akhilesh Pandey, Rong Chen, Leming Shi, Yutaka Suzuki, Todd M. Smith, Chao Guo, Zhuolin Gong, Feng Qian, Mario Fasold, Lei Guo, Ching-Wei Chang, Reagan Kelly, Ana Conesa, Yate Ching Yuan, Cesare Furlanello, Elisa Venturini, Zhan Ye, Yuanting Zheng, Jos C. S. Kleinjans, James Hadfield, Susanna-Assunta Sansone, Gordon K. Smyth, Li Wu Guo, Stan Gaj, Oliver Stegle, Yanyan Zhang, Tao Chen, Ye Yin, Anita Fernandez, Tieliu Shi, Charles D. Johnson, Baitang Ning, Fei Lu, Florian Caimet, Bing Mu, Jorge Gandara, Ke Zhang, Sheng Li, Xiwen Ma
Publikováno v: Nature biotechnology
Nature Biotechnology, 32(9), 903-914. Nature Publishing Group
We present primary results from the Sequencing Quality Control (SEQC) project, coordinated by the US Food and Drug Administration. Examining Illumina HiSeq, Life Technologies SOLiD and Roche 454 platforms at multiple laboratory sites using reference
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f574fbd57cb9cc567146ad9815046e12
https://doi.org/10.1038/nbt.2957
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5
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Autor: Electra Tapanari, Alicia Vela-Boza, Roderic Guigó, Andrea Tanzer, Antonio Rueda, Francisco J. López-Domingo, Javier Santoyo-Lopez, Julien Lagarde, Jonathan M. Mudge, Jacqueline Chrast, Joaquín Dopazo, Laurens G. Wilming, Jennifer Harrow, José M. González, Barbara Uszczynska-Ratajczak, Charles A. Steward, Cédric Howald, Alexandre Reymond
Publikováno v: Nature Communications, vol. 7, pp. 12339
Lagarde, J, Uszczynska-Ratajczak, B, Santoyo-Lopez, J, Gonzalez, J M, Tapanari, E, Mudge, J M, Steward, C A, Wilming, L, Tanzer, A, Howald, C, Chrast, J, Vela-Boza, A, Rueda, A, Lopez-Domingo, F J, Dopazo, J, Reymond, A, Guigó, R & Harrow, J 2016, ' Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq) ', Nature Communications, vol. 7, 12339 . https://doi.org/10.1038/ncomms12339
Nature Communications
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Long non-coding RNAs (lncRNAs) constitute a large, yet mostly uncharacterized fraction of the mammalian transcriptome. Such characterization requires a comprehensive, high-quality annotation of their gene structure and boundaries, which is currently
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd034b7fc9beadcb14efe0dedb325e72
https://serval.unil.ch/notice/serval:BIB_C29EE3009EC0
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6
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
Autor: Salud Borrego, Javier Santoyo-Lopez, Alicia Vela-Boza, Marta Bleda, Olivia Spleiss, Luz Garcia-Alonso, Joaquín Dopazo, Francisco García-García, Pablo Arce, Macarena Ruiz-Ferrer, Alicia Amadoz, Juan Antonio Rodríguez, Antonio Rueda, Guillermo Antiñolo, Josephine T. Daub, Arcadi Navarro, Cristina Méndez-Vidal, Miguel Álvarez-Tejado, Gerard Muntané, Javier Florido, Alejandro Alemán, Francisco J. López-Domingo, Todd E. Arnold, Shomi S. Bhattacharya
Publikováno v: MOLECULAR BIOLOGY AND EVOLUTION
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Digital.CSIC. Repositorio Institucional del CSIC
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Molecular Biology and Evolution
Recercat. Dipósit de la Recerca de Catalunya
idUS. Depósito de Investigación de la Universidad de Sevilla
Dopazo, Joaquín et al.
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0237bb1044b5b7cebf42b2ef7f203f
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1446
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7
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Autor: Guillermo Antiñolo, Nereida Bravo-Gil, Salud Borrego, Joaquín Dopazo, Cristina Méndez-Vidal, Alicia Vela-Boza, María González del Pozo
Publikováno v: idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
BMC Genetics
BMC GENETICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the clinical application of an integrated n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2618ba9375e852689ef7f5df68d84ca
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8
The role of the interactome in the maintenance of deleterious variability in human populations
Autor: Guillermo Antiñolo, Luz Garcia-Alonso, Javier Santoyo-Lopez, Alicia Vela-Boza, José Carbonell-Caballero, Joaquín Dopazo, Jorge Jiménez-Almazán
Publikováno v: Garcia-Alonso, L, Jiménez-Almazán, J, Carbonell-Caballero, J, Vela-Boza, A, Santoyo-López, J, Antiñolo, G & Dopazo, J 2014, ' The role of the interactome in the maintenance of deleterious variability in human populations ', Molecular Systems Biology, vol. 10, no. 9 . https://doi.org/10.15252/msb.20145222
Molecular Systems Biology
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Recent genomic projects have revealed the existence of an unexpectedly large amount of deleterious variability in the human genome. Several hypotheses have been proposed to explain such an apparently high mutational load. However, the mechanisms by w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258c3afce50e25aad800103f0420ed04
https://www.pure.ed.ac.uk/ws/files/335816068/Molecular_Systems_Biology_2014_Garcia_Alonso_The_role_of_the_interactome_in_the_maintenance_of_deleterious.pdf
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9
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
Autor: Cristina Méndez-Vidal, Joaquín Dopazo, Salud Borrego, María González del Pozo, Guillermo Antiñolo, Alicia Vela-Boza, Nereida Bravo-Gil
Publikováno v: idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e116176 (2014)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Plos One
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425fc696d8d40525d5c709bcc9adca1f
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10
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
Autor: Joaquín Dopazo, Cristina Méndez-Vidal, Luz Garcia-Alonso, Carmen Vázquez-Marouschek, María González del Pozo, Javier Santoyo-Lopez, Antonio Rueda, Guillermo Antiñolo, Nereida Bravo-Gil, Salud Borrego, Alicia Vela-Boza
Publikováno v: González-del Pozo, M, Méndez-Vidal, C, Santoyo-Lopez, J, Vela-Boza, A, Bravo-Gil, N, Rueda, A, García-Alonso, L, Vázquez-Marouschek, C, Dopazo, J, Borrego, S & Antiñolo, G 2013, ' Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family ', Molecular Genetics and Genomic Medicine, vol. 2, no. 2, pp. 124-133 . https://doi.org/10.1002/mgg3.50
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
Molecular Genetics & Genomic Medicine
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917eb110aeb7a99d7bd5779acc5ca9fa
https://www.pure.ed.ac.uk/ws/files/343967344/Molec_Gen_Gen_Med_2013_Gonz_lez_del_Pozo_Deciphering_intrafamilial_phenotypic_variability_by_exome_sequencing_in_a.pdf
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