Abstract

Genome-wide association studies and candidate-gene based approaches have identified multiple common variants associated with increased risk of sudden cardiac death (SCD). However, the independent contribution of these individual loci to disease risk is modest. To investigate the cumulative [...]

Abstract

A bicuspid aortic valve (BAV) is associated with accelerated aortic valve disease (AVD) and abnormalities in aortic elasticity. We investigated the intima-media thickness of the descending aorta (AoIMT) in patients with AVD with or without an ascending aortic aneurysm (AscAA), in [...]

Abstract

Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with restricted interests and stereotyped behaviors. The genetic evidence of neurodevelopmental disorders is widely supported in the medical literature. The most [...]

Abstract

International audience; Green mobility solutions are receiving currently an enormous attention. Indeed, during last years, electric vehicles, being part of the field of the smart-grid, entered the automobile market of the whole world. This technology requires an effective deployment [...]

Abstract

- The data-driven parallelization framework Hadoop MapReduce allows analysing large data sets in a scalable way. Since the development of MapReduce programs can be a time-intensive and challenging task, the application and usage of Hadoop in Biomedical Research is still limited. Here [...]

Abstract

We present pipeComp ( https://github.com/plger/pipeComp ), a flexible R framework for pipeline comparison handling interactions between analysis steps and relying on multi-level evaluation metrics. We apply it to the benchmark of single-cell RNA-sequencing analysis pipelines using [...]

Abstract

International audience; Targeted metagenomics, also known as metagenetics, is a high-throughput sequencing application focusing on a nucleotide target in a microbiome to describe its taxonomic content. A wide range of bioinformatics pipelines are available to analyze sequencing outputs, [...]

Abstract

The aim of this study was to investigate the effects of long-distance road transport (19 h, from Poland to Italy) during 2 seasons (summer vs. win- ter) on clinical and hematological variables in calves. The environmental temperature range that could com- promise the thermoregulation [...]

Abstract

Background Chromatin accessibility profiling assays such as ATAC-seq and DNase1-seq offer the opportunity to rapidly characterize the regulatory state of the genome at a single nucleotide resolution. Optimization of molecular protocols has enabled the molecular biologist to produce [...]

Abstract

Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, [...]