Evidence map›Paper›PMID 34993494›Full record

ArticleNature computational science2021

Detection of quantitative trait loci from RNA-seq data with or without genotypes using BaseQTL.

Elena Vigorito, Wei-Yu Lin, Colin Starr, Paul D W Kirk, Simon R White, Chris Wallace

Abstract read
In one paragraph

Article in Nature computational science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
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  8. Detecting context-dependent gene regulation.Nature computational science · 2021
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Elena VigoritoMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0001-6230-3849
Wei-Yu LinMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0002-9267-7988
Colin StarrMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.
Paul D W KirkMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0002-5931-7489
Simon R WhiteMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0001-8642-7037
Chris WallaceMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0001-9755-1703

Funding

Medical Research Council MC_UU_00002/10Medical Research Council MC_UU_00002/13Medical Research Council MC_UU_00002/2Medical Research Council MC_UU_00002/4Medical Research Council MR/R013926/1Wellcome Trust 107881
6 · The paper itself

Abstract

Detecting genetic variants associated with traits (quantitative trait loci, QTL) requires genotyped study individuals. Here we describe BaseQTL, a Bayesian method that exploits allele-specific expression to map molecular QTL from sequencing reads (eQTL for gene expression) even when no genotypes are available. When used with genotypes to map eQTL, BaseQTL has lower error rates and increased power compared with existing QTL mapping methods. Running without genotypes limits how many tests can be performed, but due to the proximity of QTL variants to gene bodies, the 2.8% of variants within a 100 kB window that could be tested contained 26% of eQTL detectable with genotypes. eQTL effect estimates were invariably consistent between analyses performed with and without genotypes. Often, sequencing data may be generated in the absence of genotypes on patients and controls in differential expression studies, and we identified an apparent psoriasis-specific eQTL for

Identifiers

PMID34993494
PMCPMC7612174

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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.