Lluís Armengol

Accounting for uncertainty when assessing association between copy number and disease: a latent class model (2009)

González, Juan R, Subirana, Isaac, Escaramís, Geòrgia, Peraza, Solymar, Cáceres, Alejandro, Estivill, Xavier, ...

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,...

Estructura del genoma (2009)

Tomàs Marquès-Bonet, Lluís Armengol

El genoma és una estructura altament dinàmica amb una certa tendència a la inestabilitat, i està, per tant, subjecte a l'escrutini de la selecció natural. En el camí d'entendre el genoma hem...

ProSeeK: A web server for MLPA probe design (2008)

Pantano, Lorena, Armengol, Lluís, Villatoro, Sergi, Estivill, Xavier

Abstract Background The technological evolution of platforms for detecting genome-wide copy number imbalances has allowed the discovery of an unexpected amount of human sequence that is variable in...

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) (2008)

González, Juan R, Carrasco, Josep L, Armengol, Lluís, Villatoro, Sergi, Jover, Lluís, Yasui, Yutaka, ...

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...

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia (2008)

Brunet, Anna, Armengol, Lluís, Pelaez, Trini, Guillamat, Roser, Vallès, Vicenç, Gabau, Elisabeth, ...

Abstract Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and...

Genetic and genomic analysis modeling of germline c-MYCoverexpression and cancer susceptibility (2008)

Solé, Xavier, Hernández, Pilar, De Heredia, Miguel, Armengol, Lluís, Rodríguez-Santiago, Benjamín, Gómez, Laia, ...

Abstract Background Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering...

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) (2008)

González, Juan R., Carrasco Jordan, Josep Lluís, Armengol, Lluís, Villatoro, Sergi, Jover Armengol, Lluís De, Yasui, Yutaka, ...

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...

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees (2007)

Marques-Bonet, Tomàs, Sànchez-Ruiz, Jesús, Armengol, Lluís, Khaja, Razi, Bertranpetit, Jaume, Lopez-Bigas, Núria, ...

Abstract Background The role that chromosomal rearrangements might have played in the speciation processes that have separated the lineages of humans and chimpanzees has recently come into the...

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events (2007)

Bosch, Nina, Cáceres, Mario, Cardone, Maria Francesca, Carreras, Anna, Ballana, Ester, Rocchi, Mariano, ...

Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements....

Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies (2007)

Xavier Estivill, Lluís Armengol

Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs) have been completed successfully for several common disorders and have detected over 30 new associations....

SNPassoc: an R package to perform whole genome association studies (2007)

González, Juan R., Armengol, Lluís, Solé, Xavier, Guinó, Elisabet, Mercader, Josep M., Estivill, Xavier, ...

Summary: The popularization of large-scale genotyping projects has led to the widespread adoption of genetic association studies as the tool of choice in the search for single nucleotide...

SNPassoc: an R package to perform whole genome association studies (2007)

González, Juan R., Armengol, Lluís, Solé, Xavier, Guinó, Elisabet, Mercader, Josep M., Estivill, Xavier, ...

Summary: The popularization of large scale genotyping projects has led to the widespread adoption of genetic association studies as the tool of choice in the search for single nucleotide...

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements (2003)

Armengol, Lluís, Pujana, Miguel Angel, Cheung, Joseph, Scherer, Stephen W., Estivill, Xavier

The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements...

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements (2003)

Armengol, Lluís, Pujana, Miguel Angel, Cheung, Joseph, Scherer, Stephen W., Estivill, Xavier

The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements...

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions (2003)

Gimelli, Giorgio, Pujana, Miguel Angel, Patricelli, Maria Grazia, Russo, Silvia, Giardino, Daniela, Larizza, Lidia, ...

Parental submicroscopic genomic inversions have recently been demonstrated to be present in several genomic disorders. These inversions are genomic polymorphisms that facilitate misalignment and...

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements (2003)

Armengol, Lluís, Pujana, Miguel Angel, Cheung, Joseph, Scherer, Stephen W., Estivill, Xavier

The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements...

El detector de colors.' El detector de colores' (1986)

Castells, Joan, Maicas, Rosa, Fuentes, Manuel, Armengol, Lluís

Muestra al descubrimiento de los colores a partir de la vida cotidiana. Se pretende motivar a los niños para que deseen jugar a los juegos que se les presenta, para experimentar y aprender cuando...

Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

Estivill, Xavier, Armengol, Lluís

Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs) have been completed successfully for several common disorders and have detected over 30 new associations....

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

Marques-Bonet, Tomàs, Sànchez-Ruiz, Jesús, Armengol, Lluís, Khaja, Razi, Bertranpetit, Jaume, Lopez-Bigas, Núria, ...

Analysis of the genes located in rearranged human and chimpanzee chromosomes identified lower divergence than for those in colinear chromosomes.

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Brunet, Anna, Armengol, Lluís, Pelaez, Trini, Guillamat, Roser, Vallès, Vicenç, Gabau, Elisabeth, ...

Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial...