The last 20 years of advancement in DNA sequencing technologies have led to the sequencing of thousands of microbial genomes, creating mountains of genetic data. While our efficiency in generating the data improves almost daily, applying meaningful relationships between the taxonomic and genetic entities on this scale requires a structured and integrative approach. Currently, the knowledge is distributed across a fragmented landscape of resources from government-funded institutions such as NCBI and UniProt to topic-focused databases like the ODB3 database of prokaryotic operons, to the supplemental table of a primary publication. A major drawback to large scale, expert curated databases is the expense of maintaining and extending them over time. No entity apart from a major institution with stable long term funding can consider this, and their scope is limited considering the magnitude of microbial data being generated daily. Wikidata is an, openly editable, semantic web compatible framework for knowledge representation. It is a project of the Wikimedia Foundation and offers knowledge integration capabilities ideally suited to the challenge of representing the exploding body of information about microbial genomics. We are developing a microbial specific data model, based on Wikidata’s semantic web compatibility, that represents bacterial species, strains and the gene and gene products that define them. Currently, we have loaded 1736 gene items and 1741 protein items for two strains of the human pathogenic bacteria Chlamydia trachomatis and used this subset of data as an example of the empowering utility of this model. In our next phase of development, we will expand by adding another 118 bacterial genomes and their gene and gene products, totaling over 900,000 additional entities. This aggregation of knowledge will be a platform for community-driven collaboration, allowing the networking of microbial genetic data through the sharing of knowledge by both the data and domain expert.

Natural selection may often favor coordination between different traits, or phenotypic integration, in order to most efficiently acquire and deploy scarce resources. As leaves are the primary photosynthetic organ in plants, many have proposed that leaf physiology, biochemistry, and anatomical structure are coordinated along a functional trait spectrum from fast, resource-acquisitive syndromes to slow, resource-conservative syndromes. However, the coordination hypothesis has rarely been tested at a phylogenetic scale most relevant for understanding rapid adaptation in the recent past or predicting evolutionary trajectories in response to climate change. To that end, we used a common garden to examine genetically-based coordination between leaf traits across 19 wild and cultivated tomato taxa. We found surprisingly weak integration between photosynthetic rate, leaf structure, biochemical capacity, and CO2 diffusion, even though all were arrayed in the predicted direction along a ‘fast-slow’ spectrum. This suggests considerable scope for unique trait combinations to evolve in response to new environments or in crop breeding. In particular, we find that partially independent variation in stomatal and mesophyll conductance may allow a plant to improve water-use efficiency without necessarily sacrificing maximum photosynthetic rates. Our study does not imply that functional trait spectra or tradeoffs are unimportant, but that the many important axes of variation within a taxonomic group may be unique and not generalizable to other taxa.

The capacity to map traits over large cohorts of individuals – phenomics – lags far behind the explosive development in genomics. For microbes the estimation of growth is the key phenotype. We introduce an automated microbial phenomics framework that delivers accurate and highly resolved growth phenotypes at an unprecedented scale. Advancements were achieved through introduction of transmissive scanning hardware and software technology, frequent acquisition of precise colony population size measurements, extraction of population growth rates from growth curves and removal of spatial bias by reference-surface normalization. Our prototype arrangement automatically records and analyses 100,000 experiments in parallel. We demonstrate the power of the approach by extending and nuancing the known salt defence biology in baker’s yeast. The introduced framework will have a transformative impact by providing high-quality microbial phenomics data for extensive cohorts of individuals and generating well-populated and standardized phenomics databases.

While implementing the algorithm, we discovered two mathematical mistakes in Gotoh’s paper that induce sub-optimal sequence alignments. First, there are minor indexing mistakes in the dynamic programming algorithm which become apparent immediately when implementing the procedure. Hence, we report on these for the sake of completeness. Second, there is a more profound problem with the dynamic programming matrix initialization. This initialization issue can easily be missed and find its way into actual implementations. This error is also present in standard text books. Namely, the widely used books by Gusfield and Waterman. To obtain an initial estimate of the extent to which this error has been propagated, we scrutinized freely available undergraduate lecture slides. We found that 8 out of 31 lecture slides contained the mistake, while 16 out of 31 simply omit parts of the initialization, thus giving an incomplete description of the algorithm. Finally, by inspecting ten source codes and running respective tests, we found that five implementations were incorrect. Note that, not all bugs we identified are due to the mistake in Gotoh’s paper. Three implementations rely on additional constraints that limit generality. Thus, only two out of ten yield correct results. We show that the error introduced by Gotoh is straightforward to resolve and provide a correct open-source reference implementation. We do believe though, that raising the awareness about these errors is critical, since the impact of incorrect pairwise sequence alignments that typically represent one of the very first stages in any bioinformatics data analysis pipeline can have a detrimental impact on downstream analyses such as multiple sequence alignment, orthology assignment, phylogenetic analyses, divergence time estimates, etc.

The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and a wide range of BP-related quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus.

Ash dieback due to Hymenoscyphus fraxineus is threatening the Fraxinus excelsior species in most of its natural range in Europe and it is becoming obvious that other species in the Fraxinus genus are susceptible to the disease. The fungal pathogen apparently originates from Asia where it may act as an endophyte of local species like F. mandshurica. Previous studies reported significant levels of genetic variability for susceptibility in F. excelsior either in field or inoculation experiments. The present study was based on a field experiment planted in 1995, fifteen years before onset of the disease. Crown and collar status were monitored on 788 trees from 23 open-pollinated progenies originating from 3 French provenances. Susceptibility was modelled using a Bayesian approach where spatio-temporal effects were explicitly taken into account, thus providing accurate narrow-sense heritability estimates (h²). While moderate narrow-sense heritability estimates for Crown Dieback (CD, h² = 0.42 in this study) have already been reported in the literature, this study is first to show that Collar Lesions are also heritable (h² = 0.49 for prevalence and h² = 0.42 for severity) and that there is significant genetic correlation between the severities of both traits (r_spearman=0.40). Unexpectedly, their spatio-temporal dynamics followed almost opposite patterns. While no significant Provenance effect were detected for any trait, significant Family effects were found for both CD and CL. Moreover, the analysis strategy implemented here allowed to compute Individual Breeding Values (IBV) and to show that there is more genetic variability within families than between families. In agreement with previous reports, early flushing correlates with better crown status. Consequences of these results in terms of management and breeding are discussed.

Integrons recombine gene arrays and favor the spread of antibiotic resistance. However, their broader roles in bacterial adaptation remain mysterious, partly due to lack of computational tools. We made a program – IntegronFinder – and used it to identify integrons in bacterial genomes with high accuracy and sensitivity. Some key taxa, such as α-Proteobacteria, lacked integrons suggesting they constitute deleterious genetic backgrounds for these elements. Integrons were much more frequent in intermediate size genomes, suggesting selection for compact gene acquisition. We used comparative genomics to quantify the differences between mobile and persistent integrons. The use of a covariance model to identify and align attC sites showed higher intrinsic variability in mobile integrons and a correlation between attC sites homogeneity and the number of integron cassettes. Surprisingly, numerous arrays of attC sites lacked nearby integrases (or pseudogenes of integrases), included many novel cassettes, and exhibited very diverse attC sites. These attC0 elements might provide incoming mobile integrons with a large unexplored pool of novel cassettes in genomes that currently lack integrons. They might also represent an intermediate step of the process of horizontal gene transfer following integron-capture and preceding definitive stabilization by loss of genetic mobility.