Evidence map›Paper›PMID 31844111›Full record

ArticleScientific reports2019

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset.

Letitia M F Sng, Peter C Thomson, Daniah Trabzuni

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Regulatory elements inGenetics in medicine open · 2024
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Genetic control of the human brain proteome.American journal of human genetics · 2021
    Article
  10. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 3 countries.

Letitia M F SngThe University of Sydney, School of Life and Environmental Sciences, New South Wales, 2006, Australia.
Peter C ThomsonThe University of Sydney, School of Life and Environmental Sciences, New South Wales, 2006, Australia.ORCID http://orcid.org/0000-0003-4428-444X
Daniah TrabzuniDepartment of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK. d.trabzuni@ucl.ac.uk.ORCID http://orcid.org/0000-0003-4826-9570
The University of Sydney · AUKing Faisal Specialist Hospital & Research Centre · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Understanding the complexity of the human brain transcriptome architecture is one of the most important human genetics study areas. Previous studies have applied expression quantitative trait loci (eQTL) analysis at the genome-wide level of the brain to understand the underlying mechanisms relating to neurodegenerative diseases, primarily at the transcript level. To increase the resolution of our understanding, the current study investigates multi/single-region, transcript/exon-level and cis versus trans-acting eQTL, across 10 regions of the human brain. Some of the key findings of this study are: (i) only a relatively small proportion of eQTLs will be detected, where the sensitivity is under 5%; (ii) when an eQTL is acting in multiple regions (MR-eQTL), it tends to have very similar effects on gene expression in each of these regions, as well as being cis-acting; (iii) trans-acting eQTLs tend to have larger effects on expression compared to cis-acting eQTLs and tend to be specific to a single region (SR-eQTL) of the brain; (iv) the cerebellum has a very large number of eQTLs that function exclusively in this region, compared with other regions of the brain; (v) importantly, an interactive visualisation tool (Shiny app) was developed to visualise the MR/SR-eQTL at transcript and exon levels.

Identifiers

PMID31844111
PMCPMC6915738
OpenAlexW2995748290

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.