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Nickerson, D.

Publications and source records attributed to Nickerson, D..

5 recordsLinked to original sources

Using SED-ML for reproducible curation: Verifying BioModels across multiple simulation engines

The BioModels Repository contains over 1000 manually curated mechanistic models from published literature, most often encoded in the Systems Biology Markup Language (SBML). This community-based standard formally specifies each model, but does not describe the computational experimental conditions to run a simulation. Therefore, it can be challenging to reproduce any figure or result from a publication with an SBML model alone. The Simulation Experiment Description Markup Language (SED-ML) provides a solution: a standard way to specify exactly how to run an experiment corresponding to a specific figure or result. BioModels was established years before SED-ML, and both systems evolved over time, both in content and acceptance. Hence, only about half of the entries in BioModels contained SED-ML files, and these files reflected the version of SED-ML that was available at the time. Additionally, almost all of these SED-ML files had at least one minor mistake that made them invalid. To make these models and their results more reproducible, we report here on our work updating, correcting and generating new SED-ML files for 1055 curated mechanistic models in BioModels. In addition, because SED-ML is implementation-independent, it can be used for verification, demonstrating that results hold across multiple simulation engines. We tested, corrected, and improved over 450 existing SED-ML files in the BioModels database, and created basic files for the rest of the entries. Then, we used a wrapper architecture for interpreting SED-ML, and report verification results across five different ODE-based biosimulation engines, after further improving the models, the wrappers, and the engines themselves. Our work with SED-ML and the BioModels collection aims to improve the utility of these models by making them more reproducible and credible. Improved reproducibility means these models are now even more fit for re-use, such as in new investigations and as components of multiscale models. Author summaryReproducing computationally-derived scientific results seems like it should be straightforward, but is often elusive. Code is lost, file formats change, and knowledge of what was done is only partially recorded and/or forgotten. Model repositories such as BioModels address this failing in the Systems Biology domain by encoding models in a standard format that can reproduce a figure from the paper from which it was drawn. Here, we delved into the BioModels repository to create and correct the instructions on what to do with every curated model, and then tested those instructions on a variety of simulation platforms, allowing us to find and correct issues with the platforms and the simulators themselves. Not only did this improve the BioModels repository, but also improved the infrastructure necessary to run these verification comparisons in the future, and improved the fitness of the models for re-use by other researchers.

systems biology↗

Rapid conversion of replicating and integrating Saccharomyces cerevisiae plasmid vectors via Cre recombinase

Plasmid shuttle vectors capable of replication in both Saccharomyces cerevisiae and Escherichia coli and optimized for controlled modification in vitro and in vivo are a key resource supporting yeast as a premier system for genetics research and synthetic biology. We have engineered a series of yeast shuttle vectors optimized for efficient insertion, removal and substitution of plasmid yeast replication loci, allowing generation of a complete set of integrating, low copy and high copy plasmids via predictable operations as an alternative to traditional subcloning. We demonstrate the utility of this system through modification of replication loci via Cre recombinase, both in vitro and in vivo, and restriction endonuclease treatments.

molecular biology↗

ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we use the recently identified JBTS-associated protein ARMC9 in tandem-affinity purification and yeast two-hybrid screens to identify a novel ciliary module composed of ARMC9-TOGARAM1-CCDC66-CEP104- CSPP1. TOGARAM1-variants cause JBTS and disrupt its interaction with ARMC9. Using a combination of protein interaction analyses and characterization of patient-derived fibroblasts, CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrate that dysfunction of ARMC9 or TOGARAM1 results in short cilia with decreased axonemal acetylation and glutamylation, but relatively intact transition zone function. Aberrant serum-induced ciliary resorption and cold-induced depolymerization in both ARMC9 and TOGARAM1 patient cells lines suggest a role for this new JBTS-associated protein complex in ciliary stability.

genetics↗

Harmonizing semantic annotations for computational models in biology

Life science researchers use computational models to articulate and test hypotheses about the behavior of biological systems. Semantic annotation is a critical component for enhancing the interoperability and reusability of such models as well as for the integration of the data needed for model parameterization and validation. Encoded as machine-readable links to knowledge resource terms, semantic annotations describe the computational or biological meaning of what models and data represent. These annotations help researchers find and repurpose models, accelerate model composition, and enable knowledge integration across model repositories and experimental data stores. However, realizing the potential benefits of semantic annotation requires the development of model annotation standards that adhere to a community-based annotation protocol. Without such standards, tool developers must account for a variety of annotation formats and approaches, a situation that can become prohibitively cumbersome and which can defeat the purpose of linking model elements to controlled knowledge resource terms. Currently, no consensus protocol for semantic annotation exists among the larger biological modeling community. Here, we report on the landscape of current semantic annotation practices among the COmputational Modeling in BIology NEtwork (COMBINE) community and provide a set of recommendations for building a consensus approach to semantic annotation.

scientific communication and education↗

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO) in a small percentage of families. Clinical surveys report an increased prevalence of missense variants in NOTCH1 in family members of individuals with LVOTO and other types of congenital heart disease (CHD). However, the risk conferred by rare variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare missense variants were found in an additional 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and non-coding variants in NOTCH1 in 271 adult cases and 333,571 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO (g.chr9:139427582C>T, Odds Ratio 16.9, p=3.12e-6; g.chr9:139435649C>T, Odds Ratio 19.6, p = 2.44e-6) amongst European-ancestry British individuals. This result was replicated in an independent analysis of 51 cases and 68,901 controls of non-European and mixed ancestry. We conclude that carrying rare predicted loss of function variants or either of two intronic variants in NOTCH1 confer significant risk for LVOTO. Our approach demonstrates the utility of population-based datasets in quantifying the specific risk of individual variants for disease related phenotypes.\n\nAuthor summaryCongenital heart defects are the most common class of birth defect and are present in 1% of live births. Although CHD cases are often clustered in families, and thus the causal variant(s) are seemingly inherited, finding genetic variants causing these defects has been challenging. With the knowledge that variation in the NOTCH1 gene previously has been associated with CHDs affecting the left side of the heart, our aim was to further investigate the role of different types of NOTCH1 variants in left sided CHDs in two cohorts - a cohort of Finnish families with severe lesions affecting the left side of the heart, and the UK Biobank population including individuals with less severe left-sided lesions such as bicuspid aortic valve, congenital aortic stenosis, and coarctation of the aorta. We found a causal loss-of-function NOTCH1 variant in 6% of the families in the Finnish cohort and in the UK Biobank cohort, we identified two rare variants in the non-coding region of NOTCH1, associated with severe left-sided CHDs. These findings support screening of NOTCH1 loss-of-function variants in patients with severe left sided congenital heart defects and suggests that non-coding region variants in NOTCH1 play a role in CHDs.

genetics↗