Daily Archives: May 5, 2014


Author: Davide Cangelosi Background: Cancer patient’s outcome is written, in part, in the gene expression profile of the tumor. We previously identified a 62-probe sets signature (NB-hypo) to identify tissue hypoxia in neuroblastoma tumors and showed that NB-hypo stratified neuroblastoma patients in good and poor outcome 1. It was important […]

Use of Attribute Driven Incremental Discretization and Logic Learning Machine ...


Author: Margherita Mutarelli Background: Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences. Whole Exome Sequencing of patients can be a cost-effective alternative to standard genetic screenings to find causative mutations of genetic diseases, especially when the […]

A community-based resource for automatic exome variant-calling and annotation in ...



Author: Massimiliano Izzo MotivationMolecular biology laboratories require extensive metadata to improve data collection and analysis. The heterogeneity of the collected metadata grows as research is evolving in to international multi-disciplinary collaborations and increasing data sharing among institutions. Single standardization is not feasible and it becomes crucial to develop digital repositories […]

A digital repository with an extensible data model for biobanking ...


Author: Maria Angela Diroma Background: Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits. Bioinformatics tools have been optimized to retrieve a large amount […]

Extraction and annotation of human mitochondrial genomes from 1000 Genomes ...



Author: Arouna Omar IntroductionThis report documents a rare case of Chryseobacterium indologenes urinary tract infection in Senegal. Chryseobacterium indologenes is an uncommon human pathogen reported in hospital outbreaks in Taiwan and there have been some sporadic cases reported in Europe and in the USA mainly from immune-suppressed patients.Case presentationThis case […]

Chryseobacterium indologenes in a woman with acute leukemia in Senegal: ...


Author: Daniela Lombardi IntroductionSalmonella enterica is a leading cause of foodborne infections worldwide and includes more than 2500 different serovars, causing primarily gastroenteritis. However, the infection may occur elsewhere and produce characteristic clinical syndromes. Meningitis is a rare complication that occurs in less than 1% of clinical salmonellosis.Case presentationWe describe […]

Salmonella enterica serovar Virchow meningitis in a young man in ...




Author: Sandra M Petersen Background: Since analysis of Sidestream Dark Field images still requires subjective interpretation, we wanted to determine intra-observer repeatability and to estimate the correlation between different evaluation methods. Methods: Fifty-four Sidestream Dark Field videos were analyzed twice by the same blinded observer using validated software. Vessels were […]

Sidestream dark field images of the microcirculation: intra-observer reliability and ...