Details

Autor(en) / Beteiligte

• Kim-Hellmuth, Sarah
• Aguet, François
• Oliva, Meritxell
• Muñoz-Aguirre, Manuel
• Kasela, Silva
• Wucher, Valentin
• Castel, Stephane E
• Hamel, Andrew R
• Viñuela, Ana
• Roberts, Amy L
• Mangul, Serghei
• Wen, Xiaoquan
• Wang, Gao
• Barbeira, Alvaro N
• Garrido-Martín, Diego
• Nadel, Brian B
• Zou, Yuxin
• Bonazzola, Rodrigo
• Quan, Jie
• Brown, Andrew
• Martinez-Perez, Angel
• Soria, José Manuel
• Getz, Gad
• Dermitzakis, Emmanouil T
• Small, Kerrin S
• Stephens, Matthew
• Xi, Hualin S
• Im, Hae Kyung
• Guigó, Roderic
• Segrè, Ayellet V
• Stranger, Barbara E
• Ardlie, Kristin G
• Lappalainen, Tuuli

Titel

Cell type-specific genetic regulation of gene expression across human tissues

Ist Teil von

• Science (American Association for the Advancement of Science), 2020-09, Vol.369 (6509)

Ort / Verlag

United States: The American Association for the Advancement of Science

Erscheinungsjahr

2020

Quelle

Science Online_科学在线

Beschreibungen/Notizen

• 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 composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.