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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Objective: To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a resolution that is more appropriate for preimplantation genetic diagnosis (PGD) in translocation carriers.

Design: Study of diagnostic accuracy.

Setting: University hospital.

Patient(s): Fifteen patients with a balanced structural rearrangement were included in the study: eight reciprocal translocations, four Robertsonian translocations, two inversions, and one insertional translocation.

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors

Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters. The recent development of whole exome sequencing enrichment designs for several non-model species created the need for a species-independent, fast and versatile analysis tool, capable of tackling a wide variety of standard and more complex inheritance models. With this aim, we developed "Mendelian", an R-package that can be used for heuristic variant filtering.

An integrated network of Arabidopsis growth regulators and its use for gene prioritization

Elucidating the molecular mechanisms that govern plant growth has been an important topic in plant research, and current advances in large-scale data generation call for computational tools that efficiently combine these different data sources to generate novel hypotheses. In this work, we present a novel, integrated network that combines multiple large-scale data sources to characterize growth regulatory genes in Arabidopsis, one of the main plant model organisms.

The Plant Genome Integrative Explorer Resource:

Accessing and exploring large-scale genomics data sets remains a significant challenge to researchers without specialist bioinformatics training.

We present the integrated platform for exploration of Populus, conifer and Arabidopsis genomics data, which includes expression networks and associated visualization tools. Standard features of a model organism database are provided, including genome browsers, gene list annotation, BLAST homology searches and gene information pages. Community annotation updating is supported via integration of WebApollo.

The impact of initial evenness on biodiversity maintenance for a four-species in silico bacterial community

Initial community evenness has been shown to be a key factor in preserving the functional stability of an ecosystem, but has not been accounted for in previous modelling studies. We formulate a model that allows the initial evenness of the community to be varied in order to investigate the consequent impact on system diversity. We consider a community of four interacting bacterial species, and present a stochastic, spatial individual-based model simulating the ecosystem dynamics. Interactions take place on a two-dimensional lattice.


MULTIMOT is a H2020 EU funded project that aims to build an open data ecosystem for cell migration research, through standardization, dissemination and meta-analysis efforts.The Componics lab of BIG N2N partner Lennart Martens is participating. Prof. Martens and collaborators explain their contribution to the project in this movie:

Cellular Heterogeneity in the Level of mtDNA Heteroplasmy in Mouse Embryonic Stem Cells

Variation in the level of mtDNA heteroplasmy in adult tissues is commonly seen in patients with a mixture of wild-type and mutant mtDNA. A mixture of different mtDNA variants may influence such variation and cause mtDNA segregation bias. We analyzed cellular heterogeneity in embryonic stem cells (ESCs) derived from a polymorphic mouse model containing NZB and BALB mtDNA genotypes. In ESCs, inter-colony heterogeneity varied up to 61%, whereas intra-colony heterogeneity varied up to 100%.

Post-Peak ICT: Graceful Degradation for Communication Networks in an Energy Constrained Future

In recent years, rising energy prices and increasing environmental concerns have boosted research in the so called green ICT and green networking research tracks, aimed at improving the energy efficiency of communications while still offering maximal functionality. In this article we explore a future scenario in which low power networking is no longer optional, but instead becomes a necessity due to fluctuating energy availability. The contribution of this work is twofold.