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Sergio Alías-Segura

dblp:426/4495 · DBLP profile ↗
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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

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › gene expression analysis
differential expression analysis
0.812024
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
0.812024
Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes · Bioinform. 2024
Bioinformatics and computational biology
gene expression analysis
0.812024
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
0.812024
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
YearPublicationVenuePosition
2024 Differential expression and co-expression reveal cell types relevant to genetic disorder phenotypes
abstract
MOTIVATION: 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