Demo Data from EDBT 2026 / reviewers in the wild / expert
Sergio Alías-Segura
dblp:426/4495
· DBLP profile ↗
1ranked-venue papers
1as first author
1since 2021 · last 2024
0000-0002-2928-4890ORCID · reported
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021
Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.
| Interdisciplinary, comprehensive, and emerging computing
1 paper |
Bioinformatics and computational biology · 100% |
Topics — the 4 heaviest of 4, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › gene expression analysis
differential expression analysis |
0.8 | 1 | 2024 | Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes · Bioinform. 2024 |
Bioinformatics and computational biology › gene expression analysis
gene co-expression analysis |
0.8 | 1 | 2024 | Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes · Bioinform. 2024 |
Bioinformatics and computational biology
gene expression analysis |
0.8 | 1 | 2024 | Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes · Bioinform. 2024 |
Bioinformatics and computational biology › single-cell analysis
single-cell transcriptomics |
0.8 | 1 | 2024 | Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes · Bioinform. 2024 |
Methods — techniques the papers use, named apart from their topics
single-cell RNA sequencing analysis · 0.8
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2024 | Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypesabstractMOTIVATION: Knowledge of the specific cell types affected by genetic alterations in rare diseases is crucial for advancing diagnostics and treatments. Despite significant progress, the cell types involved in the majority of rare disease manifestations remain largely unknown. In this study, we integrated scRNA-seq data from non-diseased samples with known genetic disorder genes and phenotypic information to predict the specific cell types disrupted by pathogenic mutations for 482 disease phenotypes. RESULTS: We found significant phenotype-cell type associations focusing on differential expression and co-expression mechanisms. Our analysis revealed that 13% of the associations documented in the literature were captured through differential expression, while 42% were elucidated through co-expression analysis, also uncovering potential new associations. These findings underscore the critical role of cellular context in disease manifestation and highlight the potential of single-cell data for the development of cell-aware diagnostics and targeted therapies for rare diseases. AVAILABILITY AND IMPLEMENTATION: All code generated in this work is available at https://github.com/SergioAlias/sc-coex. Sergio Alías-Segura, Florencio Pazos, Monica Chagoyen |
Bioinform. | 1 |