02551nas a2200301 4500008004100000022001400041245008500055210006900140260001600209300000700225490000700232520160800239653001501847653001801862653001301880653004201893653001101935653002301946653002701969653001301996100002002009700002002029700002302049700002002072700002002092700002202112856011502134 2015 eng d a1471-210500aFast inexact mapping using advanced tree exploration on backward search methods.0 aFast inexact mapping using advanced tree exploration on backward c2015 Jan 28 a180 v163 a

BACKGROUND: Short sequence mapping methods for Next Generation Sequencing consist on a combination of seeding techniques followed by local alignment based on dynamic programming approaches. Most seeding algorithms are based on backward search alignment, using the Burrows Wheeler Transform, the Ferragina and Manzini Index or Suffix Arrays. All these backward search algorithms have excellent performance, but their computational cost highly increases when allowing errors. In this paper, we discuss an inexact mapping algorithm based on pruning strategies for search tree exploration over genomic data.

RESULTS: The proposed algorithm achieves a 13x speed-up over similar algorithms when allowing 6 base errors, including insertions, deletions and mismatches. This algorithm can deal with 400 bps reads with up to 9 errors in a high quality Illumina dataset. In this example, the algorithm works as a preprocessor that reduces by 55% the number of reads to be aligned. Depending on the aligner the overall execution time is reduced between 20-40%.

CONCLUSIONS: Although not intended as a complete sequence mapping tool, the proposed algorithm could be used as a preprocessing step to modern sequence mappers. This step significantly reduces the number reads to be aligned, accelerating overall alignment time. Furthermore, this algorithm could be used for accelerating the seeding step of already available sequence mappers. In addition, an out-of-core index has been implemented for working with large genomes on systems without expensive memory configurations.

10aAlgorithms10aGenome, Human10aGenomics10aHigh-Throughput Nucleotide Sequencing10aHumans10aSequence Alignment10aSequence Analysis, DNA10aSoftware1 aSalavert, José1 aTomás, Andrés1 aTárraga, Joaquín1 aMedina, Ignacio1 aDopazo, Joaquin1 aBlanquer, Ignacio uhttp://clinbioinfosspa.es/content/fast-inexact-mapping-using-advanced-tree-exploration-backward-search-methods02675nas a2200385 4500008004100000022001400041245016600055210006900221260001300290300001000303490000700313520140700320653002201727653001201749653001801761653002601779653003001805653001001835653001301845653001101858653001301869653004401882653002601926653001301952653002401965653002601989100002502015700001902040700002302059700002002082700001602102700002002118700002002138856013102158 2007 eng d a1362-496200aFatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments.0 aFatiGO a functional profiling tool for genomic data Integration  c2007 Jul aW91-60 v353 a

The ultimate goal of any genome-scale experiment is to provide a functional interpretation of the data, relating the available information with the hypotheses that originated the experiment. Thus, functional profiling methods have become essential in diverse scenarios such as microarray experiments, proteomics, etc. We present the FatiGO+, a web-based tool for the functional profiling of genome-scale experiments, specially oriented to the interpretation of microarray experiments. In addition to different functional annotations (gene ontology, KEGG pathways, Interpro motifs, Swissprot keywords and text-mining based bioentities related to diseases and chemical compounds) FatiGO+ includes, as a novelty, regulatory and structural information. The regulatory information used includes predictions of targets for distinct regulatory elements (obtained from the Transfac and CisRed databases). Additionally FatiGO+ uses predictions of target motifs of miRNA to infer which of these can be activated or deactivated in the sample of genes studied. Finally, properties of gene products related to their relative location and connections in the interactome have also been used. Also, enrichment of any of these functional terms can be directly analysed on chromosomal coordinates. FatiGO+ can be found at: http://www.fatigoplus.org and within the Babelomics environment http://www.babelomics.org.

10aAmino Acid Motifs10aAnimals10aBinding Sites10aComputational Biology10aGene Expression Profiling10aGenes10aGenomics10aHumans10aInternet10aOligonucleotide Array Sequence Analysis10aProgramming Languages10aSoftware10aSystems Integration10aTranscription Factors1 aAl-Shahrour, Fátima1 aMinguez, Pablo1 aTárraga, Joaquín1 aMedina, Ignacio1 aAlloza, Eva1 aMontaner, David1 aDopazo, Joaquin uhttp://clinbioinfosspa.es/content/fatigo-functional-profiling-tool-genomic-data-integration-functional-annotation-regulatory-001766nas a2200205 4500008004100000022001400041245009400055210006900149260001600218300001000234490000600244520105200250100001701302700002001319700002701339700002301366700002501389700002001414856012601434 2007 eng d a0973-206300aFunctional profiling and gene expression analysis of chromosomal copy number alterations.0 aFunctional profiling and gene expression analysis of chromosomal c2007 Apr 10 a432-50 v13 a

Contrarily to the traditional view in which only one or a few key genes were supposed to be the causative factors of diseases, we discuss the importance of considering groups of functionally related genes in the study of pathologies characterised by chromosomal copy number alterations. Recent observations have reported the existence of regions in higher eukaryotic chromosomes (including humans) containing genes of related function that show a high degree of coregulation. Copy number alterations will consequently affect to clusters of functionally related genes, which will be the final causative agents of the diseased phenotype, in many cases. Therefore, we propose that the functional profiling of the regions affected by copy number alterations must be an important aspect to take into account in the understanding of this type of pathologies. To illustrate this, we present an integrated study of DNA copy number variations, gene expression along with the functional profiling of chromosomal regions in a case of multiple myeloma.

1 aConde, Lucia1 aMontaner, David1 aBurguet-Castell, Jordi1 aTárraga, Joaquín1 aAl-Shahrour, Fátima1 aDopazo, Joaquin uhttp://clinbioinfosspa.es/content/functional-profiling-and-gene-expression-analysis-chromosomal-copy-number-alterations-0