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Mondo supports alignment of different disease attributes that are captured ... Open Access
Published: 16 February 2026
Figure 1
Mondo supports alignment of different disease attributes that are captured in different sources. In order to form a complete picture of knowledge about a given disease, we need an authoritative handle (stable reference) to robustly and reproducibly collate disease features. A diagram demonstratin
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Creation of new ‘epilepsy type’ terms to align with the ILAE. Existing term... Open Access
Published: 16 February 2026
Figure 2
Creation of new ‘epilepsy type’ terms to align with the ILAE. Existing terms are depicted in lighter shading and new terms that were added as an outcome of the workshop are depicted in darker shading. The new terms were asserted as subclasses of MONDO:0005027 epilepsy. Note, this is just a partial r
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Revisions to the top-level epilepsy hierarchy in Mondo to introduce new ‘ep... Open Access
Published: 16 February 2026
Figure 3
Revisions to the top-level epilepsy hierarchy in Mondo to introduce new ‘epilepsy types’ in alignment with the ILAE. Existing terms are depicted in lighter shading, and new terms that were added as an outcome of the workshop are depicted in darker shading. Terms that were reclassified are indicated
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Representation of age-specific epilepsy syndromes in Mondo, revised to alig... Open Access
Published: 16 February 2026
Figure 4
Representation of age-specific epilepsy syndromes in Mondo, revised to align with ILAE. (a) The ‘childhood-onset epilepsy syndrome’ was revised to reclassify terms and add new grouping classes and new concepts. (b) The ‘neonatal/infantile epilepsy syndrome’ and the (c) ‘variable age epilepsy syndrom
Journal Article
Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology Open Access
Database, Volume 2026, 2026, baag004, https://doi.org/10.1093/database/baag004
Published: 16 February 2026
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Revised representation of ‘developmental and epileptic encephalopathy’. Maj... Open Access
Published: 16 February 2026
Figure 5
Revised representation of ‘developmental and epileptic encephalopathy’. Major revisions are still underway, and currently we are considering the addition of the generic ‘developmental and epileptic encephalopathy’ and relabelling of MONDO:0100062 to ‘hereditary developmental and epileptic encephalop
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Revisions to MONDO:0800491 ‘early-infantile syndrome’ included revised syno... Open Access
Published: 16 February 2026
Figure 6
Revisions to MONDO:0800491 ‘early-infantile syndrome’ included revised synonyms and subclasses. ‘Early myoclonic encephalopathy’ is proposed to be merged into ‘early-infantile DEE’ and ‘Ohtahara syndrome’ is proposed to be a new synonym. The subclasses were revised, and these three DEE subtypes rema
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The top phenotypes that are characteristic in rare epilepsy datasets in the... Open Access
Published: 16 February 2026
Figure 7
The top phenotypes that are characteristic in rare epilepsy datasets in the C-Path KG. A bar graph quantifying phenotypes that are present in datasets.
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Dynamic, interactive tables displaying neomer profiles across genes and can... Open Access
Published: 12 February 2026
Figure 3
Dynamic, interactive tables displaying neomer profiles across genes and cancer types. (A) Conceptual overview of the neomerDB database interface. Coloured cursor symbols match the colour of their corresponding outlined view. (B–C) Interactive table and customizable query interfaces for (B) neomers a
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Interface of the visualizations offered by neomerDB. (A) Pie chart displayi... Open Access
Published: 12 February 2026
Figure 4
Interface of the visualizations offered by neomerDB. (A) Pie chart displaying the number of neomers identified per cancer type and (inset) across different k -mer lengths for a specific cancer type. (B) Heatmap displaying the Jaccard similarity index values representing the overlap between neomer s
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Performance of neomer biomarkers in cfDNA and cfRNA from liquid biopsies fo... Open Access
Published: 12 February 2026
Figure 5
Performance of neomer biomarkers in cfDNA and cfRNA from liquid biopsies for glioblastoma detection. (A–B) Unique neomer counts and total neomer counts found in (A) cfDNA (Mann–whitney U- test, P -value = .27, .002) and (B) cfRNA (Mann–Whitney U -test, P -value = .002, .007). (C) ROC-AUC curves
Journal Article
neomerDB: a comprehensive database of neomer biomarkers in cancer Open Access
Database, Volume 2026, 2026, baag006, https://doi.org/10.1093/database/baag006
Published: 12 February 2026
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Overview of neomerDB. The database integrates neomers derived from two diff... Open Access
Published: 12 February 2026
Figure 1
Overview of neomerDB. The database integrates neomers derived from two different approaches: (1) 2658 whole genome sequencing tumour-normal paired samples and (2) 10 000 whole exome sequencing tumour-normal paired samples. Neomers identified from germline variants, from 76 215 whole genomes and 730
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Statistics of neomerDB. (A) Sankey plot depicting the flow of exome neomers... Open Access
Published: 12 February 2026
Figure 2
Statistics of neomerDB. (A) Sankey plot depicting the flow of exome neomers across 26 organs, 26 cancer types, and 16 variant classifications. Results are shown for neomers of 16 bp. In parentheses next to the tissue type, cancer type, and mutation category, the total number of nullomers detected is
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Usage of ProteoformDB. (A) On the ‘Information Search’ page, users can perf... Open Access
Published: 09 February 2026
Figure 2
Usage of ProteoformDB. (A) On the ‘Information Search’ page, users can perform the search of proteoforms and genes through multiple keywords search or batch search. The search results provide access to gene and proteoform information pages, allowing users to explore detailed information. Additionall
Journal Article
ProteoformDB: an integrative database for functional roles of proteoforms Open Access
Database, Volume 2026, 2026, baag005, https://doi.org/10.1093/database/baag005
Published: 09 February 2026
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Framework overview of ProteoformDB. (A) Basic data of ProteoformDB include ... Open Access
Published: 09 February 2026
Figure 1
Framework overview of ProteoformDB. (A) Basic data of ProteoformDB include data from genes to proteoforms, Clusters of Orthologous Groups, domain–domain interactions, post-translational modifications, intrinsically disordered regions, and proteoform-disease associations. The data storage is powered
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Functional consistency and divergence profiles across species. The bar plot... Open Access
Published: 09 February 2026
Figure 3
Functional consistency and divergence profiles across species. The bar plot displays the proportion of proteoforms of genes exhibiting consistent versus divergent functions for 30 representative species selected from the extremities and mid-range of the functional divergence spectrum. Species are gr
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predicTox homepage. A screenshot of the homepage, which provides searchable... Open Access
Published: 02 February 2026
Figure 1.
predicTox homepage. A screenshot of the homepage, which provides searchable DrugTox summary cards and gene summary Cards. The homepage also provides clickable links to various pages that list data sets and other downloadable materials.
Journal Article
predicTox: an integrated database of clinical risk frequencies and human gene expression signatures for cardiotoxic drugs Open Access
Database, Volume 2026, 2026, baag003, https://doi.org/10.1093/database/baag003
Published: 02 February 2026
