ABCDEFGHIJKLMNOPQRSTU
1
review_notesuses_DOuse_typetool_IDtool_nametool_urltool_roleresearch_areadiseasetitlepmidpmciddoiadded_dtcitesfirst_authorjournalpub_datepub_typesourcescopus_eid
2
does NOT cite DOyesprimary analysisassociation > disease-genetic | biomarkersmyocardial infarction (DOID:5844)
Identification of hub biomarkers of myocardial infarction by single-cell sequencing, bioinformatics, and machine learning.
35958412PMC9357907
10.3389/fcvm.2022.939972
2022-11-10 20:19:04Zhang Q
Front Cardiovasc Med
2022-07-25Journal Article
ncbi_col-pubmed
3
Identification of immune hub genes participating in the pathogenesis and progression of Vogt-Koyanagi-Harada disease.
35958546PMC9358976
10.3389/fimmu.2022.936707
2022-11-10 20:19:04Wang YFront Immunol2022-07-25Journal Article
ncbi_col-pubmed
4
Regulome-based characterization of drug activity across the human diseasome.
36344521
10.1038/s41540-022-00255-4
2022-11-10 20:18:35
2015_NAR_Kibbe
Iwata M
NPJ Syst Biol Appl
2022-11-07Journal Articlepubmed
5
[Rare-disease data standards].36149471PMC9636095
10.1007/s00103-022-03591-2
2022-11-10 20:18:35
2022_NAR_Schriml
Robinson PN
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
2022-11-01
Journal Article|Review
pubmed; scopus
6
Graph representation learning in biomedicine and healthcare.
36316368
10.1038/s41551-022-00942-x
2022-11-10 20:18:35
2012_NAR_Schriml
Li MMNat Biomed Eng2022-10-31
Journal Article|Review
pubmed
7
Effective medical center finding during COVID-19 pandemic using a spatial DSS centered on ontology engineering.
36320661PMC9612622
10.1007/s10708-022-10777-3
2022-11-10 20:18:35
2019_NAR_Schriml|2012_NAR_Schriml
Rezaei ZGeoJournal2022-10-27Journal Articlepubmed; scopus
8
A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology.
36271389PMC9585694
10.1186/s13326-022-00279-z
2022-11-10 20:18:35
2022_NAR_Schriml
He Y
J Biomed Semantics
2022-10-21Journal Articlepubmed; scopus
9
A network-based approach for isolating the chronic inflammation gene signatures underlying complex diseases towards finding new treatment opportunities.
36313344PMC9597699
10.3389/fphar.2022.995459
2022-11-10 20:18:35
2019_NAR_Schriml
Hickey SLFront Pharmacol2022-10-12Journal Articlepubmed; scopus
10
Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods.
36233204PMC9569903
10.3390/ijms231911902
2022-11-10 20:18:35
2012_NAR_Schriml|2009_BMCG_Osborne
Kozlova AAInt J Mol Sci2022-10-07Journal Articlepubmed; scopus
11
<i>Caulis Polygoni Multiflori</i> Accelerates Megakaryopoiesis and Thrombopoiesis via Activating PI3K/Akt and MEK/ERK Signaling Pathways.
36297316PMC9607024
10.3390/ph15101204
2022-11-10 20:18:35
2012_NAR_Schriml
Yang X
Pharmaceuticals (Basel)
2022-09-28Journal Articlepubmed; scopus
12
Survival-based bioinformatics analysis to identify hub long non-coding RNAs along with lncRNA-miRNA-mRNA network for potential diagnosis/prognosis of thyroid cancer.
36149574
10.1007/s12079-022-00697-9
2022-11-10 20:18:35
2019_NAR_Schriml
Morovat P
J Cell Commun Signal
2022-09-23Journal Articlepubmed; scopus
13
Assessing equivalent and inverse change in genes between diverse experiments.
36304274PMC9580844
10.3389/fbinf.2022.893032
2022-11-10 20:18:35
2012_NAR_Schriml
Neums LFront Bioinform2022-09-21Journal Articlepubmed
14
Modeling and integration of N-glycan biomarkers in a comprehensive biomarker data model.
35925813PMC9487899
10.1093/glycob/cwac046
2022-11-10 20:18:352015_DB_WuLyman DFGlycobiology2022-09-19Journal Articlepubmed
15
Signatures of Co-Deregulated Genes and Their Transcriptional Regulators in Lung Cancer.
36142846PMC9504879
10.3390/ijms231810933
2022-11-10 20:18:35
2015_NAR_Kibbe
Chatziantoniou AInt J Mol Sci2022-09-18Journal Articlepubmed; scopus
16
Identification of the Diagnostic Biomarker VIPR1 in Hepatocellular Carcinoma Based on Machine Learning Algorithm.
36157238PMC9499748
10.1155/2022/2469592
2022-11-10 20:18:35
2019_NAR_Schriml|2018_DMM_Bello|2012_NAR_Schriml
Ge SJ Oncol2022-09-15Journal Articlepubmed; scopus
17
H19 may regulate the immune cell infiltration in carcinogenesis of gastric cancer through miR-378a-5p/SERPINH1 signaling.
36104825PMC9472414
10.1186/s12957-022-02760-6
2022-11-10 20:18:35
2018_DMM_Bello
Li J
World J Surg Oncol
2022-09-14Journal Articlepubmed; scopus
18
Integrating and formatting biomedical data as pre-calculated knowledge graph embeddings in the Bioteque.
36085310PMC9463154
10.1038/s41467-022-33026-0
2022-11-10 20:18:35
2018_DMM_Bello
Fernández-Torras A
Nat Commun2022-09-09Journal Articlepubmed; scopus
19
The Representation of Causality and Causation with Ontologies: A Systematic Literature Review.
36120162PMC9473331
10.5210/ojphi.v14i1.12577
2022-11-10 20:18:35
2012_NAR_Schriml
Sawesi S
Online J Public Health Inform
2022-09-07
Journal Article|Review
pubmed
20
Inferring human miRNA-disease associations via multiple kernel fusion on GCNII.
36134032PMC9483142
10.3389/fgene.2022.980497
2022-11-10 20:18:35
2012_NAR_Schriml
Lu SFront Genet2022-09-05Journal Articlepubmed; scopus
21
Organization of gene programs revealed by unsupervised analysis of diverse gene-trait associations.
35716123PMC9410900
10.1093/nar/gkac413
2022-11-10 20:18:35
2012_NAR_Schriml
Mizikovsky D
Nucleic Acids Res
2022-08-26Journal Articlepubmed
22
a computational method for large-scale prediction & molecular interpretation of disease comorbidityyesweb appLeMeDISCOpredictioncomorbidities
LeMeDISCO is a computational method for large-scale prediction &amp; molecular interpretation of disease comorbidity.
36008469PMC9411158
10.1038/s42003-022-03816-9
2022-11-10 20:18:35
2012_NAR_Schriml
Astore CCommun Biol2022-08-25Journal Articlepubmed; scopus
23
Identifying piwi-interacting RNA-disease associations based on Learning to RankiPiDA-LTRsemantic similaritypiRNA
iPiDA-LTR: Identifying piwi-interacting RNA-disease associations based on Learning to Rank.
35969645PMC9410559
10.1371/journal.pcbi.1010404
2022-11-10 20:18:35
2019_NAR_Schriml
Zhang W
PLoS Comput Biol
2022-08-15Journal Articlepubmed; scopus
24
CCAS
CCAS: One-stop and comprehensive annotation system for individual cancer genome at multi-omics level.
36035123PMC9403316
10.3389/fgene.2022.956781
2022-11-10 20:18:35
2022_NAR_Schriml
Zheng XFront Genet2022-08-11Journal Articlepubmed; scopus
25
Circulating microRNA signatures associated with disease severity and outcome in COVID-19 patients.
36032130PMC9403711
10.3389/fimmu.2022.968991
2022-11-10 20:18:35
2015_NAR_Kibbe
Giannella AFront Immunol2022-08-11Journal Articlepubmed; scopus
26
Ten quick tips for biomarker discovery and validation analyses using machine learning.
35951526PMC9371329
10.1371/journal.pcbi.1010357
2022-11-10 20:18:35
2012_NAR_Schriml
Diaz-Uriarte R
PLoS Comput Biol
2022-08-11Journal Articlepubmed; scopus
27
A survey of genome-wide association studies, polygenic scores and UK Biobank highlights resources for autoimmune disease genetics.
35990650PMC9388859
10.3389/fimmu.2022.972107
2022-11-10 20:18:35
2022_NAR_Schriml
Saurabh RFront Immunol2022-08-05
Journal Article|Review
pubmed; scopus
28
Identification and characterization of four immune-related signatures in keloid.
35967426PMC9365668
10.3389/fimmu.2022.942446
2022-11-10 20:18:35
2018_DMM_Bello
Wang XFront Immunol2022-07-27Journal Articlepubmed; scopus
29
Contribution of model organism phenotypes to the computational identification of human disease genes.
35758016PMC9366895
10.1242/dmm.049441
2022-11-10 20:18:35
2022_NAR_Schriml
Alghamdi SMDis Model Mech2022-07-01Journal Articlepubmed; scopus
30
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
36262335PMC9557141
10.12688/f1000research.110194.1
2022-11-10 20:18:35
2012_NAR_Schriml
Walker KF1000Res2022-05-16Journal Articlepubmed; scopus
31
paywall, no access enrichment analysis
Gene Ontology: application and importance in functional annotation of the genomic data
10.1016/B978-0-323-89775-4.00015-8
2022-11-10 13:41:56
2009_BMCG_Osborne
Saxena R
Bioinformatics: Methods and Applications
2021-01-01
Book|Book Chapter
scopus
2-s2.0-85139302224
32
Support vector machine based disease classification model employing hasten eagle Cuculidae search optimization
10.1002/cpe.7259
2022-11-10 13:41:37
2012_NAR_Schriml
Rao KV
Concurrency and Computation: Practice and Experience
2022-11-15Journal|Articlescopus
2-s2.0-85136530394
33
Ontology-based categorization of clinical studies by their conditions
36283581
10.1016/j.jbi.2022.104235
2022-11-10 13:41:37
2012_NAR_Schriml
Liu H
Journal of Biomedical Informatics
2022-11-01Journal|Articlescopus
2-s2.0-85140925219
34
Transcriptome and DNA methylome analyses reveal underlying mechanisms for the racial disparity in uterine fibroids
36066972
10.1172/jci.insight.160274
2022-11-10 13:41:37
2012_NAR_Schriml
Paul ENJCI Insight2022-10-24Journal|Articlescopus
2-s2.0-85140418022
35
Biomedical Relation Extraction With Knowledge Graph-Based Recommendations
35536818
10.1109/JBHI.2022.3173558
2022-11-10 13:41:37
2012_NAR_Schriml
Sousa D
IEEE Journal of Biomedical and Health Informatics
2022-08-01Journal|Articlescopus
2-s2.0-85132523504
36
ConSIG
ConSIG: Consistent discovery of molecular signature from OMIC data
35758241
10.1093/bib/bbac253
2022-11-10 13:41:37
2012_NAR_Schriml
Li F
Briefings in Bioinformatics
2022-07-01Journal|Articlescopus
2-s2.0-85134720455
37
A Semantic Framework Supporting Multilayer Networks Analysis for Rare Diseases
10.4018/IJSWIS.297141
2022-11-10 13:41:37
2012_NAR_Schriml
Capuano N
International Journal on Semantic Web and Information Systems
2022-01-01Journal|Articlescopus
2-s2.0-85133127602
38
Graph Convolutional Auto-Encoders for Predicting Novel lncRNA-Disease Associations
33819159
10.1109/TCBB.2021.3070910
2022-11-10 13:41:37
2012_NAR_Schriml
Silva ABOV
IEEE/ACM Transactions on Computational Biology and Bioinformatics
2022-01-01Journal|Articlescopus
2-s2.0-85103890921
39
In Silico Databases and Tools for Drug Repurposing
10.1016/B978-0-12-816125-8.00024-9
2022-11-10 13:41:37
2012_NAR_Schriml
Serçinoğlu O
In Silico Drug Design: Repurposing Techniques and Methodologies
2019-01-01
Book|Book Chapter
scopus
2-s2.0-85137861293
40
Adding structured information to the ANVISA’s “Bulário Eletrônico”
2022-11-10 13:41:37
2012_NAR_Schriml
da Silva JVF
SBSI 2015 - Proceedings of the Annual Conference on Brazilian Symposium on Information Systems, Information Systems: A Computer Socio-Technical Perspective
2015-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85135286745
41
idenMD-NRF: A ranking framework for miRNA-disease association identification
35679537
10.1093/bib/bbac224
2022-11-10 13:41:19
2015_NAR_Kibbe
Zhang W
Briefings in Bioinformatics
2022-07-01Journal|Articlescopus
2-s2.0-85134636046
42
A comprehensive decision support model for online doctors ranking with interval-valued neutrosophic numbers
10.1111/itor.13208
2022-11-10 13:41:19
2015_NAR_Kibbe
Liang P
International Transactions in Operational Research
2022-01-01Journal|Articlescopus
2-s2.0-85137565918
43
DeepIDA: Predicting Isoform-Disease Associations by Data Fusion and Deep Neural Networks
33571094
10.1109/TCBB.2021.3058801
2022-11-10 13:41:19
2015_NAR_Kibbe
Yu G
IEEE/ACM Transactions on Computational Biology and Bioinformatics
2022-01-01Journal|Articlescopus
2-s2.0-85101488457
44
Overcoming Sparseness of Biomedical Networks to Identify Drug Repositioning Candidates
33591920
10.1109/TCBB.2021.3059807
2022-11-10 13:41:19
2015_NAR_Kibbe|2012_NAR_Schriml
Poleksic A
IEEE/ACM Transactions on Computational Biology and Bioinformatics
2022-01-01Journal|Articlescopus
2-s2.0-85101288709
45
Bidirectional spreading activation method for finding human diseases relatedness using well formed disease ontology
10.4018/978-1-7998-1204-3.ch090
2022-11-10 13:41:19
2015_NAR_Kibbe
Fathalla S
Data Analytics in Medicine: Concepts, Methodologies, Tools, and Applications
2019-12-06
Book|Book Chapter
scopus
2-s2.0-85137555437
46
Biomedical ontologies and their development, management, and applications in and beyond China
10.1097/JBR.0000000000000051
2022-11-10 13:41:19
2015_NAR_Kibbe
Pan H
Journal of Bio-X Research
2019-01-01Journal|Reviewscopus
2-s2.0-85113395977
47
Rule Based Medicine Recommendation for Skin Diseases Using Ontology with Semantic Information
10.1007/978-3-031-12638-3_31
2022-11-10 13:41:08
2015_MG_Schriml
Subbulakshmi S
Communications in Computer and Information Science
2022-01-01
Book Series|Conference Paper
scopus
2-s2.0-85135898427
48
Identification of Biomarkers in Intracranial Aneurysm and Their Immune Infiltration Characteristics
35798291
10.1016/j.wneu.2022.06.138
2022-11-10 13:41:06
2018_DMM_Bello
Huang C
World Neurosurgery
2022-10-01Journal|Articlescopus
2-s2.0-85135348017
49
Using FlyBase: A Database of Drosophila Genes and Genetics
35980571
10.1007/978-1-0716-2541-5_1
2022-11-10 13:41:06
2018_DMM_Bello
Jenkins VK
Methods in Molecular Biology
2022-01-01
Book Series|Book Chapter
scopus
2-s2.0-85136639786
50
A Novel Tightly Coupled Information System for Research Data Management
10.3390/electronics11193196
2022-11-10 13:41:05
2019_NAR_Schriml
Senagi K
Electronics (Switzerland)
2022-10-01Journal|Articlescopus
2-s2.0-85139868482
51
Paving the way for enriched metadata of linguistic linked data
10.3233/SW-222994
2022-11-10 13:41:05
2019_NAR_Schriml
Di Buono MPSemantic Web2022-08-29Journal|Articlescopus
2-s2.0-85140839697
52
DIGEST (in silico validation of disease and gene sets, clusterings or subnetworks)yesontologyDIGEST
Online in silico validation of disease and gene sets, clusterings or subnetworks with DIGEST
35753693
10.1093/bib/bbac247
2022-11-10 13:41:05
2019_NAR_Schriml
Adamowicz K
Briefings in Bioinformatics
2022-07-01Journal|Articlescopus
2-s2.0-85134721065
53
mentions DO onlymentionCARING
Artificial Intelligence in Bioinformatics: From Omics Analysis to Deep Learning and Network Mining
10.1016/C2019-0-04920-5
2022-11-10 13:41:05
2019_NAR_Schriml|2012_NAR_Schriml
Cannataro M
Artificial Intelligence in Bioinformatics: From Omics Analysis to Deep Learning and Network Mining
2022-01-01Book|Bookscopus
2-s2.0-85138931915
54
CARING for xAI
https://ceur-ws.org/Vol-3204/paper_5.pdf
2022-11-10 13:41:05
2019_NAR_Schriml
Bertini F
CEUR Workshop Proceedings
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85138226596
55
ontology-based human knowledge to extract semantically related sentences from doctor's notes to support the use of deep learning for reliable training and classification; use existing disease ontologies to identify terms that are semantically related to a given diagnosisyesknowledgebaseknowledge graphs
Fine-Grained ICD Code Assignment Using Ontology-Based Classification
http://www.cis.umassd.edu/~hxu/Papers/UMD/2019/CP/IEEE-IRI22-Carberry-Xu.pdf
10.1109/IRI54793.2022.00058
2022-11-10 13:41:05
2019_NAR_Schriml
Carberry J
Proceedings - 2022 IEEE 23rd International Conference on Information Reuse and Integration for Data Science, IRI 2022
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85139018761
56
an online platform that serves as a sustainable archive providing medical data, metadata, models, and novel phenotypes from clinical trials, epidemiological studies and other medical research projectsyesknowledgebase
Leipzig Health Atlas
data > aggregationnational research data infrastructure
The Leipzig Health Atlas-An open platform to present, archive and share bio-medical data, analyses and models online
10.1055/a-1914-1985
2022-11-10 13:41:05
2019_NAR_Schriml|2015_MG_Schriml|2012_NAR_Schriml
Kirsten T
Methods of Information in Medicine
2022-01-01Journal|Articlescopus
2-s2.0-85136156537
57
A Review: Biological Insights on Knowledge Graphs
10.1007/978-3-031-15743-1_36
2022-11-10 13:41:00
2022_NAR_Schriml
Galluzzo Y
Communications in Computer and Information Science
2022-01-01
Book Series|Conference Paper
scopus
2-s2.0-85137987064
58
paywalled, review papernoEBOCA
EBOCA: Evidences for BiOmedical Concepts Association Ontology
https://arxiv.org/pdf/2208.01093.pdf
10.1007/978-3-031-17105-5_11
2022-11-10 13:41:00
2022_NAR_Schriml
Pérez AÁ
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
2022-01-01
Book Series|Conference Paper
scopus
2-s2.0-85140489445
59
paywalled, Lynn is co-authoryesonline platform115CIViCvariant > annotationcancer (DOID:162)
A community approach to the cancer-variant-interpretation bottleneck.
35624339
10.1038/s43018-022-00379-w
2022-08-10 20:37:57Krysiak KNat Cancer2022-05-01Journal Article
ncbi_col-pubmed
60
already in list; does not cite or mention DO in article but uses it; see user list for detailsyesontology216HHEARexposure
Human Health Exposure Analysis Resource (HHEAR): A model for incorporating the exposome into health studies.
34034040PMC8205973
10.1016/j.ijheh.2021.113768
2022-08-10 20:37:57Viet SM
Int J Hyg Environ Health
2021-06-01
Journal Article|Review
ncbi_col-pubmed
61
already in list; does not cite or mention DO in article but uses it; see user list for detailsyesontology217CHEARpediatric | exposure
The Children's Health Exposure Analysis Resource: enabling research into the environmental influences on children's health outcomes.
28383342PMC5491986
10.1097/MOP.0000000000000491
2022-08-10 20:37:57Balshaw DMCurr Opin Pediatr2017-06-01
Journal Article|Review
ncbi_col-pubmed
62
paywalled; could be a new use case
DFELMDA: Identification of miRNA–disease associations via deep forest ensemble learning based on autoencoder
miRNA | association > disease-genetic
Identification of miRNA–disease associations via deep forest ensemble learning based on autoencoder
35325038
10.1093/bib/bbac104
2022-08-10 20:37:22
2012_NAR_Schriml
Liu W
Briefings in Bioinformatics
2022-05-01Journal|Articlescopus
2-s2.0-85130766184
63
paywalled
Review on predicting pairwise relationships between human microbes, drugs and diseases: from biological data to computational models
35325024
10.1093/bib/bbac080
2022-08-10 20:37:22
2012_NAR_Schriml
Wang L
Briefings in Bioinformatics
2022-05-01Journal|Reviewscopus
2-s2.0-85130355161
64
paywalled
A Network-Based Analysis of Disease Modules from a Taxonomic Perspective
34428165
10.1109/JBHI.2021.3106787
2022-08-10 20:37:22
2012_NAR_Schriml
Grani G
IEEE Journal of Biomedical and Health Informatics
2022-04-01Journal|Articlescopus
2-s2.0-85128489347
65
paywalled
Integrated Transcriptomics and Reverse Pharmacophore Mapping-based Network Pharmacology to Explore the Mechanisms of Natural Compounds against Doxorubicin-induced Cardiotoxicity
34397328
10.2174/1386207324666210816122629
2022-08-10 20:37:22
2012_NAR_Schriml
Zhu J
Combinatorial Chemistry and High Throughput Screening
2022-01-01Journal|Articlescopus
2-s2.0-85135242548
66
mention of DO with statement of ontologies generally, but it's a paper about portugues cultural research at https://www.cidehus.uevora.pt/unclear
Digital Humanities and Portuguese Processing: a research pathway
2022-08-10 20:37:22
2012_NAR_Schriml
Vieira R
CEUR Workshop Proceedings
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85129204256
67
Survey of Various Statistical Numerical and Machine Learning Ontological Models on Infectious Disease Ontology
10.1002/9781119785620.ch17
2022-08-10 20:37:22
2012_NAR_Schriml
Natarajan Y
Data Analytics in Bioinformatics: A Machine Learning Perspective
2021-01-01
Book|Book Chapter
scopus
2-s2.0-85131172660
68
new resource, added; datasets only show labels not DOIDsyesmethod > ML | dataset218
iLncDA-LTR: Identification of lncRNA-disease associations by learning to rank
http://bliulab.net/iLncDA-LTR/
predictionlncRNA | association > disease-genetic
iLncDA-LTR: Identification of lncRNA-disease associations by learning to rank
35594681
10.1016/j.compbiomed.2022.105605
2022-08-10 20:37:12
2015_NAR_Kibbe
Wu H
Computers in Biology and Medicine
2022-07-01Journal|Articlescopus
2-s2.0-85130325784
69
REVIEW IN DETAIL, Lynn thoughts?yesprimary analysisontology > relationships | Radiology
Analysis of Causal Relationships in Integrated Ontologies of Diseases, Phenotypes, and Radiological Diagnosis
35673013
10.3233/SHTI220074
2022-08-10 20:37:12
2015_NAR_Kibbe; 2012_NAR_Schriml
Kahn CE
Studies in Health Technology and Informatics
2022-06-06
Book Series|Conference Paper
scopus; ncbi_col-pubmed
2-s2.0-85131504249
70
paywalled
Applying Transformer Models for Disease Named Entity Recognition
10.1109/ICARC54489.2022.9754023
2022-08-10 20:37:12
2015_NAR_Kibbe
Jarashanth ST
ICARC 2022 - 2nd International Conference on Advanced Research in Computing: Towards a Digitally Empowered Society
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85128916847
71
paywalled
Evaluating and extending the Informed Consent Ontology for representing permissions from the clinical domain
10.3233/AO-210260
2022-08-10 20:37:12
2015_NAR_Kibbe
Umberfield EE
Applied Ontology
2022-01-01Journal|Articlescopus
2-s2.0-85130367681
72
incorrectly cites DO, instead of ORDOno
Drug Repurposing for Rare Orphan Diseases Using Machine Learning Techniques
10.32473/flairs.v35i.130653
2022-08-10 20:37:12
2015_NAR_Kibbe
Manicavasagam R
Proceedings of the International Florida Artificial Intelligence Research Society Conference, FLAIRS
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85131130227
73
cannot get to paper, website does not show DOIDs; paywallediCircDA-LTR
iCircDA-LTR: identification of circRNA-disease associations based on Learning to Rank
10.1093/bioinformatics/btab334
2022-08-10 20:37:12
2015_NAR_Kibbe
Wei HBioinformatics2021-10-01Journal|Articlescopus
2-s2.0-85119015623
74
paywalled
Ontology Driven Cross-Linked Domain Data Integration and Spatial Semantic Multi Criteria Query System for Geospatial Public Health
10.4018/978-1-5225-8054-6.ch032
2022-08-10 20:37:08
2015_MG_Schriml
Abburu S
Geospatial Intelligence: Concepts, Methodologies, Tools, and Applications
2019-01-01
Book|Book Chapter
scopus
2-s2.0-85129038433
75
not in primary analysisminimalprimary analysisassociation > disease-genetic | exposure
Transcriptome meta-analysis of valproic acid exposure in human embryonic stem cells
35635998
10.1016/j.euroneuro.2022.04.008
2022-08-10 20:37:06
2018_DMM_Bello
Kowalski TW
European Neuropsychopharmacology
2022-07-01Journal|Articlescopus
2-s2.0-85131051182
76
uses MESH IDs; only cites DO in discussionmentiondatabaseMDADPdataassociation > disease-microbe
MDADP: A Webserver Integrating Database and Prediction Tools for Microbe-Disease Associations
35254998
10.1109/JBHI.2022.3156166
2022-08-10 20:37:05
2019_NAR_Schriml
Wang L
IEEE Journal of Biomedical and Health Informatics
2022-07-01Journal|Articlescopus
2-s2.0-85126325796
77
this is a review on lncRNA-disease association... might be worth reviewing if lncRNAs will be incorporated into DOmentionreview
Research on LncRNA and Disease Associations Prediction Base on Data Mining
10.1088/1742-6596/2219/1/012029
2022-08-10 20:37:05
2019_NAR_Schriml
Jia F
Journal of Physics: Conference Series
2022-05-06
Conference Proceeding|Conference Paper
scopus
2-s2.0-85130508715
78
paywalled
Automated intelligent online healthcare ontology Integration
10.1109/ICCI54321.2022.9756070
2022-08-10 20:37:05
2019_NAR_Schriml
Maghawry N
5th International Conference on Computing and Informatics, ICCI 2022
2022-01-01
Conference Proceeding|Conference Paper
scopus
2-s2.0-85129395870
79
cites, does not use DOmentiondatabaseODiseAdata
The Organ-Disease Annotations (ODiseA) Database of Hereditary Diseases and Inflicted Tissues
35504357
10.1016/j.jmb.2022.167619
2022-08-10 20:37:00
2022_NAR_Schriml
Hekselman I
Journal of Molecular Biology
2022-06-15Journal|Articlescopus
2-s2.0-85130310784
80
cites DO onlymentiondatasetSeEndata
SeEn: Sequential enriched datasets for sequence-aware recommendations.
35927282PMC9352715
10.1038/s41597-022-01598-7
2022-08-10 20:36:59
2019_NAR_Schriml
Barros MSci Data2022-08-04Journal Articlepubmed
81
cite, don't use DOmentionweb appPheNominal
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.
35902925PMC9335954
10.1186/s12911-022-01927-1
2022-08-10 20:36:59
2012_NAR_Schriml
Havrilla JM
BMC Med Inform Decis Mak
2022-07-28Journal Articlepubmed; scopus
82
yesprimary analysisassociation > disease-geneticage related macular degeneration (DOID:10871)
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.
35882847PMC9325891
10.1038/s41467-022-31707-4
2022-08-10 20:36:59
2019_NAR_Schriml; 2012_NAR_Schriml
Senabouth ANat Commun2022-07-26Journal Articlepubmed; scopus
83
new resource, addedyesknowledgebase | online platform219DES-Amyloidoses
https://www.cbrc.kaust.edu.sa/des-amyloidosis/home/
amyloids | association > disease-proteinamyloidosis (DOID:9120)
DES-Amyloidoses "Amyloidoses through the looking-glass": A knowledgebase developed for exploring and linking information related to human amyloid-related diseases.
35877764PMC9312389
10.1371/journal.pone.0271737
2022-08-10 20:36:59
2015_NAR_Kibbe
Bajic VPPLoS One2022-07-25Journal Articlepubmed
84
paywalled
Follistatin-like 1 and its paralogs in heart development and cardiovascular disease.
35867287
10.1007/s10741-022-10262-6
2022-08-10 20:36:59
2019_NAR_Schriml
Horak MHeart Fail Rev2022-07-22
Journal Article|Review
pubmed; scopus
85
uses DO, a platform, can not find a URL; new resource, add as method; addedyessoftware220UPHO: Urban Population Health Observatory system
https://pubmed.ncbi.nlm.nih.gov/35857363
prediction | decision support system | causal analysishealth outcomes | urban populations
An Urban Population Health Observatory for Disease Causal Pathway Analysis and Decision Support: Underlying Explainable Artificial Intelligence Model.
35857363PMC935081710.2196/360552022-08-10 20:36:59
2012_NAR_Schriml
Brakefield WSJMIR Form Res2022-07-20Journal Articlepubmed
86
main data from humsavar (UniProt w/OMIM)minimalassociation > disease-protein | protein > structure
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.
35641150PMC9294430
10.1093/bib/bbac187
2022-08-10 20:36:59
2022_NAR_Schriml
Sen NBrief Bioinform2022-07-18Journal Articlepubmed
87
mentionreviewmicrobiome
The Core Human Microbiome: Does It Exist and How Can We Find It? A Critical Review of the Concept.
35889831PMC9323970
10.3390/nu14142872
2022-08-10 20:36:59
2012_NAR_Schriml
Sharon INutrients2022-07-13
Journal Article|Review
pubmed
88
uses DO; new resource; addedyesdatabase | web app221
PharMeBINet: Pharmacological Medical Biochemical Network
https://pharmebi.net/
data > harmonizationpharmacology
The heterogeneous pharmacological medical biochemical network PharMeBINet.
35821017PMC9276653
10.1038/s41597-022-01510-3
2022-08-10 20:36:59
2019_NAR_Schriml
Königs CSci Data2022-07-11Journal Articlepubmed; scopus
89
yesmeta-analysisassociation > disease-genetic | biomarkersurinary bladder cancer (DOID:11054)
An Integrated Bioinformatics Analysis towards the Identification of Diagnostic, Prognostic, and Predictive Key Biomarkers for Urinary Bladder Cancer.
35884419PMC9319344
10.3390/cancers14143358
2022-08-10 20:36:59
2019_NAR_Schriml
Sarafidis MCancers (Basel)2022-07-10Journal Articlepubmed
90
yesprimary analysisdrug > repurposing | dietary supplement > repurposing | dietary supplement > herbal | association > disease-geneticCOVID-19 (DOID:0080600)
Virofree, an Herbal Medicine-Based Formula, Interrupts the Viral Infection of Delta and Omicron Variants of SARS-CoV-2.
35860023PMC9289459
10.3389/fphar.2022.905197
2022-08-10 20:36:59
2019_NAR_Schriml; 2009_BIX_Du
Doan LHFront Pharmacol2022-07-04Journal Articlepubmed; scopus
91
new resource (method)yesmethod > ML222GGCDA
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313348
predictionassociation > disease-genetic | circRNA
Prediction of circRNA-Disease Associations Based on the Combination of Multi-Head Graph Attention Network and Graph Convolutional Network.
35883487PMC9313348
10.3390/biom12070932
2022-08-10 20:36:59
2012_NAR_Schriml
Cao RBiomolecules2022-07-02Journal Articlepubmed; scopus
92
minimalprimary analysisassociation > disease-geneticcritical COVID-19 (DOID:0081012)
Whole-genome sequencing reveals host factors underlying critical COVID-19.
35255492PMC9259496
10.1038/s41586-022-04576-6
2022-08-10 20:36:59
2012_NAR_Schriml
Kousathanas ANature2022-07-01Journal Articlepubmed
93
does this count as a primary analysis or a method?minimalpredictionassociation > disease-genetic | disease severity
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
35760791PMC9237040
10.1038/s41467-022-31030-y
2022-08-10 20:36:59
2019_NAR_Schriml
Blair DRNat Commun2022-06-27Journal Articlepubmed; scopus
94
DO diseases converted via MeSH/OMIM to KEGG diseases for target analysis; not really a use case for DOminimal
From drug repositioning to target repositioning: prediction of therapeutic targets using genetically perturbed transcriptomic signatures.
35758779PMC9235496
10.1093/bioinformatics/btac240
2022-08-10 20:36:59
2015_NAR_Kibbe
Namba SBioinformatics2022-06-24Journal Articlepubmed; scopus
95
yesmeta-analysisassociation > disease-geneticsystemic lupus erythematosus (DOID:9074)
Omics-based integrated analysis identified IKZF2 as a biomarker associated with lupus nephritis.
35688845PMC9187727
10.1038/s41598-022-13336-5
2022-08-10 20:36:59
2012_NAR_Schriml
Zhou MSci Rep2022-06-10
Journal Article|Meta-Analysis
pubmed; scopus
96
uses DO, also uses mondo; new resource, addedyessoftware | web app223
HemI 2.0: Heat map Illustrator 2.0
https://hemi.biocuckoo.org/
visualization | clustering | enrichment analysisomics | high-dimensional visualization
HemI 2.0: an online service for heatmap illustration.
35670661PMC9252725
10.1093/nar/gkac480
2022-08-10 20:36:59
2019_NAR_Schriml
Ning W
Nucleic Acids Res
2022-06-07Journal Articlepubmed; scopus
97
new resource, added; url in paper is not consistently resolving, http://gmql.eu/gemi/yesmethod > ML | online platform | database224GeMI: Genomic Metadata Integration
https://github.com/armando2603/GeMI
data > harmonization | AI learner | NLPgenomics | metadata
GeMI: interactive interface for transformer-based Genomic Metadata Integration.
35657113PMC9216561
10.1093/database/baac036
2022-08-10 20:36:59
2019_NAR_Schriml
Serna Garcia G
Database (Oxford)
2022-06-03Journal Articlepubmed; scopus
98
cites DO, does not use DOmentionknowledgebase | online platformAnthraxKP
http://139.224.212.120:18095/
anthrax disease (DOID:7427)
AnthraxKP: a knowledge graph-based, Anthrax Knowledge Portal mined from biomedical literature.
35653350PMC9216567
10.1093/database/baac037
2022-08-10 20:36:59
2012_NAR_Schriml
Feng B
Database (Oxford)
2022-06-02Journal Articlepubmed; scopus
99
new resourceyessoftwareKGEV: Knowledge Graph Exploration and Visualizationde novo network construction | visualizationknowledge graphs
Expediting knowledge acquisition by a web framework for Knowledge Graph Exploration and Visualization (KGEV): case studies on COVID-19 and Human Phenotype Ontology.
35655307PMC9161770
10.1186/s12911-022-01848-z
2022-08-10 20:36:59
2019_NAR_Schriml
Peng J
BMC Med Inform Decis Mak
2022-06-02Journal Articlepubmed; scopus
100
describes methods using DO but no results providedunclearprimary analysis
Diagnostic genes and immune infiltration analysis of colorectal cancer determined by LASSO and SVM machine learning methods: a bioinformatics analysis.
35837194PMC9274036
10.21037/jgo-22-536
2022-08-10 20:36:59
2019_NAR_Schriml
Li YR
J Gastrointest Oncol
2022-06-01Journal Articlepubmed; scopus