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pro vyhledávání: '"González, Juan"'
Autor:
Ruiz-Arenas, Carlos1,2,3, González, Juan R.1,2,3 juanr.gonzalez@isglobal.org
Publikováno v:
BMC Bioinformatics. 12/14/2017, Vol. 18, p1-9. 9p. 1 Chart, 4 Graphs.
Akademický článek
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Publikováno v:
BMC Bioinformatics, Vol 13, Iss 1, p 130 (2012)
Abstract Background An important question in genetic studies is to determine those genetic variants, in particular CNVs, that are specific to different groups of individuals. This could help in elucidating differences in disease predisposition and re
Externí odkaz:
https://doaj.org/article/356ddaaff93a43be9b48c4ef8fff5d85
Publikováno v:
BMC Bioinformatics, Vol 13, Iss 1, p 28 (2012)
Abstract Background Polymorphic inversions are a source of genetic variability with a direct impact on recombination frequencies. Given the difficulty of their experimental study, computational methods have been developed to infer their existence in
Externí odkaz:
https://doaj.org/article/9aaaa7ccd02d4fa894f17c361b1ba9fb
Autor:
Pique-Regi Roger, Cáceres Alejandro, Rodríguez-Santiago Benjamín, González Juan R, Rothman Nathaniel, Chanock Stephen J, Armengol Lluís, Pérez-Jurado Luis A
Publikováno v:
BMC Bioinformatics, Vol 12, Iss 1, p 166 (2011)
Abstract Background Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it has
Externí odkaz:
https://doaj.org/article/3210a606143948838d756aa0ae899e54
Publikováno v:
BMC Bioinformatics, Vol 12, Iss 1, p 147 (2011)
Abstract Background Multiplex-Dependent Probe Amplification (MLPA) is a cost-effective experimental method for candidate gene studies, aimed at the identification of copy number alterations. The analysis of such genetic variants, from electropherogra
Externí odkaz:
https://doaj.org/article/b8c3798bca2b4430bbc4efe62ec4a553
Publikováno v:
BMC Bioinformatics, Vol 11, Iss 1, p 380 (2010)
Abstract Background Genome-wide association studies (GWAS) using Copy Number Variation (CNV) are becoming a central focus of genetic research. CNVs have successfully provided target genome regions for some disease conditions where simple genetic vari
Externí odkaz:
https://doaj.org/article/d050b429be304fc1ab49f9018f44754f
Autor:
Escaramís Geòrgia, Subirana Isaac, González Juan R, Peraza Solymar, Cáceres Alejandro, Estivill Xavier, Armengol Lluís
Publikováno v:
BMC Bioinformatics, Vol 10, Iss 1, p 172 (2009)
Abstract Background Copy number variations (CNVs) may play an important role in disease risk by altering dosage of genes and other regulatory elements, which may have functional and, ultimately, phenotypic consequences. Therefore, determining whether
Externí odkaz:
https://doaj.org/article/5eaadbe8a4e54a13b9736f192005ec4e
Autor:
Villatoro Sergi, Armengol Lluís, Carrasco Josep L, González Juan R, Jover Lluís, Yasui Yutaka, Estivill Xavier
Publikováno v:
BMC Bioinformatics, Vol 9, Iss 1, p 261 (2008)
Abstract Background MLPA method is a potentially useful semi-quantitative method to detect copy number alterations in targeted regions. In this paper, we propose a method for the normalization procedure based on a non-linear mixed-model, as well as a
Externí odkaz:
https://doaj.org/article/efa004e16cd645f5a7fc4abd4939708e
Publikováno v:
BMC Bioinformatics, Vol 9, Iss 1, p 161 (2008)
Abstract Background Protein structure comparison is a key problem in bioinformatics. There exist several methods for doing protein comparison, being the solution of the Maximum Contact Map Overlap problem (MAX-CMO) one of the alternatives available.
Externí odkaz:
https://doaj.org/article/382a55d1e2de4c4faa7b9e647568b6be