Motivation: The sequence alignment/map (SAM) and the binary alignment/map (BAM) formats have become the standard method of representation of nucleotide sequence alignments for next-generation sequencing data. SAM/BAM files usually contain information from tens to hundreds of millions of reads. Often, the sequencing technology, protocol and/or the selected mapping algorithm introduce some unwanted biases in these data. The systematic detection of such biases is a non-trivial task that is crucial to drive appropriate downstream analyses. Results: We have developed Qualimap, a Java application that supports user-friendly quality control of mapping data, by considering sequence features and their genomic properties. Qualimap takes sequence alignment data and provides graphical and statistical analyses for the evaluation of data. Such quality-control data are vital for highlighting problems in the sequencing and/or mapping processes, which must be addressed prior to further analyses. Availability: Qualimap is freely available from http://www.qualimap.org. Contact: aconesa@cipf.es Supplementary Information: Supplementary data are available at Bioinformatics online.

Citrus genus includes some of the most important cultivated fruit trees worldwide. Despite being extensively studied because of its commercial relevance, the origin of cultivated citrus species and the history of its domestication still remain an open question. Here, we present a phylogenetic analysis of the chloroplast genomes of 34 citrus genotypes which constitutes the most comprehensive and detailed study to date on the evolution and variability of the genus Citrus. A statistical model was used to estimate divergence times between the major citrus groups. Additionally, a complete map of the variability across the genome of different citrus species was produced, including single nucleotide variants, heteroplasmic positions, indels (insertions and deletions), and large structural variants. The distribution of all these variants provided further independent support to the phylogeny obtained. An unexpected finding was the high level of heteroplasmy found in several of the analyzed genomes. The use of the complete chloroplast DNA not only paves the way for a better understanding of the phylogenetic relationships within the Citrus genus but also provides original insights into other elusive evolutionary processes, such as chloroplast inheritance, heteroplasmy, and gene selection.

Babelomics has been running for more than one decade offering a user-friendly interface for the functional analysis of gene expression and genomic data. Here we present its fifth release, which includes support for Next Generation Sequencing data including gene expression (RNA-seq), exome or genome resequencing. Babelomics has simplified its interface, being now more intuitive. Improved visualization options, such as a genome viewer as well as an interactive network viewer, have been implemented. New technical enhancements at both, client and server sides, makes the user experience faster and more dynamic. Babelomics offers user-friendly access to a full range of methods that cover: (i) primary data analysis, (ii) a variety of tests for different experimental designs and (iii) different enrichment and network analysis algorithms for the interpretation of the results of such tests in the proper functional context. In addition to the public server, local copies of Babelomics can be downloaded and installed. Babelomics is freely available at: http://www.babelomics.org.

This article addresses the problem of the tissue type parameter estimation in brain MRI in the presence of partial volume effects. Automatic MRI brain tissue classification is hampered by partial volume effects that are caused by the finite resolution of the acquisition process. Due to this effect intensity distributions in brain MRI cannot be well modeled by a simple mixture of Gaussians and therefore more complex models have been developed. Unfortunately, these models do not seem to be robust enough for clinical conditions, as the quality of the tissue classification decreases rapidly with the image quality. Also, the application of these methods for pathological images with unmodeled intensities (e.g. MS plaques, tumors, etc.) remains uncertain. In the present work a new robust method for brain tissue characterization is presented, treating the partial volume affected voxels as outliers of the pure tissue distributions. The proposed method estimates the tissue characteristics from a reduced set of intensities belonging to a particular pure tissue class. This reduced set is selected by using a trimming procedure based on local gradient information and distributional data. This feature makes the method highly tolerant of a large amount of unexpected intensities without degrading its performance. The proposed method has been evaluated using both synthetic and real MR data and compared with state‐of‐the‐art methods showing the best results in the comparative. Magn Reson Med 59:866–873, 2008.