PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Kerimov, N.* ; Tambets, R.* ; Hayhurst, J.D.* ; Rahu, I.* ; Kolberg, P.* ; Raudvere, U.* ; Kuzmin, I.* ; Chowdhary A. ; Vija, A.* ; Teras, H.J.* ; Kanai, M.* ; Ulirsch, J.* ; Ryten, M.* ; Hardy, J.* ; Guelfi, S.* ; Trabzuni, D.* ; Kim-Hellmuth, S. ; Rayner, N.W. ; Finucane, H.* ; Peterson, H.* ; Mosaku, A.* ; Parkinson, H.* ; Alasoo, K.*

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

PLoS Genet. 19:e1010932 (2023)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
The eQTL Catalogue is an open database of uniformly processed human molecular quantitative trait loci (QTLs). We are continuously updating the resource to further increase its utility for interpreting genetic associations with complex traits. Over the past two years, we have increased the number of uniformly processed studies from 21 to 31 and added X chromosome QTLs for 19 compatible studies. We have also implemented Leafcutter to directly identify splice-junction usage QTLs in all RNA sequencing datasets. Finally, to improve the interpretability of transcript-level QTLs, we have developed static QTL coverage plots that visualise the association between the genotype and average RNA sequencing read coverage in the region for all 1.7 million fine mapped associations. To illustrate the utility of these updates to the eQTL Catalogue, we performed colocalisation analysis between vitamin D levels in the UK Biobank and all molecular QTLs in the eQTL Catalogue. Although most GWAS loci colocalised both with eQTLs and transcript-level QTLs, we found that visual inspection could sometimes be used to distinguish primary splicing QTLs from those that appear to be secondary consequences of large-effect gene expression QTLs. While these visually confirmed primary splicing QTLs explain just 6/53 of the colocalising signals, they are significantly less pleiotropic than eQTLs and identify a prioritised causal gene in 4/6 cases.
Impact Factor
Scopus SNIP
Altmetric
4.500
1.236
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Genetic-variation; Functional Variation; Expression; Quantification; Annotation; Conversion; Thousands; Alignment; Reveals
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Zeitschrift PLoS Genetics
Quellenangaben Band: 19, Heft: 9, Seiten: , Artikelnummer: e1010932 Supplement: ,
Verlag Public Library of Science (PLoS)
Verlagsort 1160 Battery Street, Ste 100, San Francisco, Ca 94111 Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-506700-001
Förderungen The RNA-seq quantification and QTL analyses were performed at the High Performance Computing Center, University of Tartu. We thank O.E. Oopkaup, S. Kuusemets and the rest of the team of the High Performance Computing Center for their professional and time
DOI 10.1371/journal.pgen.1010932
WOS ID 001070246500004
Scopus ID 85171833589
PubMed ID 37721944
Erfassungsdatum 2023-10-18
[➜Korrektur melden]