5 results for "Roderic Guigó"
Showing 1–5 · 0.24 seconds · RSS
-
Journal Article Full text
GENCODE 2025: reference gene annotation for human and mouse
GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables…
-
Journal Article Full text
The impact of sex on gene expression across human tissues
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue…
-
Journal Article
Cell type–specific genetic regulation of gene expression across human tissues
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular…
-
Journal Article Full text
The GTEx Consortium atlas of genetic regulatory effects across human tissues
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples…