Dataset Information

Pedigreejs: a web-based graphical pedigree editor.

ABSTRACT: Motivation:The collection, management and visualization of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they are time consuming to capture, and can be difficult to build, manipulate and visualize graphically. Several standalone graphical pedigree editors and drawing applications exist but there are no freely available lightweight graphical pedigree editors that can be easily configured and incorporated into web applications. Results:We developed 'pedigreejs', an interactive graphical pedigree editor written in JavaScript, which uses standard pedigree nomenclature. Pedigreejs provides an easily configurable, extensible and lightweight pedigree editor. It makes use of an open-source Javascript library to define a hierarchical layout and to produce images in scalable vector graphics (SVG) format that can be viewed and edited in web browsers. Availability and implementation:The software is freely available under GPL licence (https://ccge-boadicea.github.io/pedigreejs/). Contact:tjc29@cam.ac.uk. Supplementary information:Supplementary data are available at Bioinformatics online.

SUBMITTER: Carver T

PROVIDER: S-EPMC5860312 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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pedigreejs: a web-based graphical pedigree editor.

Carver Tim T Cunningham Alex P AP Babb de Villiers Chantal C Lee Andrew A Hartley Simon S Tischkowitz Marc M Walter Fiona M FM Easton Douglas F DF Antoniou Antonis C AC

Bioinformatics (Oxford, England) 20180301 6

<h4>Motivation</h4>The collection, management and visualization of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they are time consuming to capture, and can be difficult to build, manipulate and visualize graphically. Several standalone graphical pedigree editors and drawing applications exist but there are no freely available lightweight graphical pedigree editors that can be easily con ...[more]

PMID: 29095980

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Project description:ChemSpectra, a web-based software to visualize and analyze spectroscopic data, integrating solutions for infrared spectroscopy (IR), mass spectrometry (MS), and one-dimensional 1H and 13C NMR (proton and carbon nuclear magnetic resonance) spectroscopy, is described. ChemSpectra serves as web-based tool for the analysis of the most often used types of one-dimensional spectroscopic data in synthetic (organic) chemistry research. It was developed to support in particular processes for the use of open file formats which enable the work according to the FAIR data principles. The software can deal with the open file formats JCAMP-DX (IR, MS, NMR) and mzML (MS) proposing these data file types to gain interoperable data. ChemSpectra can be extended to read also other formats as exemplified by selected proprietary mass spectrometry data files of type RAW and NMR spectra files of type FID. The JavaScript-based editor can be integrated with other software, as demonstrated by integration into the Chemotion electronic lab notebook (ELN) and Chemotion repository, demonstrating the implementation into a digital work environment that offers additional functionality and sustainable research data management options. ChemSpectra supports different functions for working with spectroscopic data such as zoom functions, peak picking and automatic peak detection according to a default or manually defined threshold. NMR specific functions include the definition of a reference signal, the integration of signals, coupling constant calculation and multiplicity assignment. Embedded into a web application such as an ELN or a repository, the editor can also be used to generate an association of spectra to a sample and a file management. The file management supports the storage of the original spectra along with the last edited version and an automatically generated image of the spectra in png format. To maximize the benefit of the spectra editor for e.g. ELN users, an automated procedure for the transfer of the detected or manually chosen signals to the ELN was implemented. ChemSpectra is released under the AGPL license to encourage its re-use and further developments by the community.

Project description:The visual exploration and analysis of biomolecular networks is of paramount importance for identifying hidden and complex interaction patterns among proteins. Although many tools have been proposed for this task, they are mainly focused on the query and visualization of a single protein with its neighborhood. The global exploration of the entire network and the interpretation of its underlying structure still remains difficult, mainly due to the excessively large size of the biomolecular networks. In this paper we propose a novel multi-resolution representation and exploration approach that exploits hierarchical community detection algorithms for the identification of communities occurring in biomolecular networks. The proposed graphical rendering combines two types of nodes (protein and communities) and three types of edges (protein-protein, community-community, protein-community), and displays communities at different resolutions, allowing the user to interactively zoom in and out from different levels of the hierarchy. Links among communities are shown in terms of relationships and functional correlations among the biomolecules they contain. This form of navigation can be also combined by the user with a vertex centric visualization for identifying the communities holding a target biomolecule. Since communities gather limited-size groups of correlated proteins, the visualization and exploration of complex and large networks becomes feasible on off-the-shelf computer machines. The proposed graphical exploration strategies have been implemented and integrated in UNIPred-Web, a web application that we recently introduced for combining the UNIPred algorithm, able to address both integration and protein function prediction in an imbalance-aware fashion, with an easy to use vertex-centric exploration of the integrated network. The tool has been deeply amended from different standpoints, including the prediction core algorithm. Several tests on networks of different size and connectivity have been conducted to show off the vast potential of our methodology; moreover, enrichment analyses have been performed to assess the biological meaningfulness of detected communities. Finally, a CoV-human network has been embedded in the system, and a corresponding case study presented, including the visualization and the prediction of human host proteins that potentially interact with SARS-CoV2 proteins.

Project description:BackgroundInbreeding is a phenomenon that accumulates through the mating of relatives within closed populations, such as pedigree dog breeds, and results in reduced genetic variation within breeds, and may lead to poorer health and fertility from inbreeding depression. The impact of inbreeding is driven by the selection and mating of parents, but information on choices to reduce inbreeding is difficult to assess for individual breeders. Tools to inform dog breeders on the current state of the inbreeding and the relationships among possible parents are potentially useful for providing guidance towards choices that are more beneficial to the breed. However, their utility depends on their usage and this study examines the usage of Mate Select, a web-based tool offered by The Kennel Club, covering 222 breeds for a period of 7?years following its launch in 2011.ResultsThe average usage was 2830 searches/week in 2012 with a slight fall of 2.2% per year (P?<?0.001) to 2480 searches/week in 2018. Of these, 4% originated from outside the UK, across all continents except Antarctica, with the majority coming from English speaking countries. Searches/week showed a cyclical pattern with two cycles of 26.0 and 50.1?weeks. Since Mate Select's launch there has been a steady increase in searches from mobile devices, from 11% in 2012 to 43% in 2018. For the 197 breeds with at least 10 dams registered with the Kennel Club during the study period, there was a relationship between usage and registrations, with the average number of searches as a multiple of the number of dams increasing from 2 to 10 for breeds with up to 70 dams and declining towards 2 again for the largest breeds with approximately 20,000 registered dams. However, there remained substantial variation among breeds of similar size, and breeds for which EBVs had become available during the study period had a 2.46 fold greater frequency of searches per registered bitch (P?<?0.001), but this was not linked directly to the publication of EBVs.ConclusionsMate Select has sustained and substantial usage, although there is also substantial variation in usage among breeds, which offers an opportunity to develop further guidance.

Dataset Information

Pedigreejs: a web-based graphical pedigree editor.

Publications

pedigreejs: a web-based graphical pedigree editor.

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