Evidence map›Paper›PMID 21926303›Full record

ArticleGenetics2011

Bayesian detection of expression quantitative trait loci hot spots.

Leonardo Bottolo, Enrico Petretto, Stefan Blankenberg, François Cambien, Stuart A Cook, Laurence Tiret, Sylvia Richardson

Abstract read
In one paragraph

Article in Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 1 pooled it
–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

29 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Integration of Expression QTLs with fine mapping via SuSiE.medRxiv : the preprint server for health sciences · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. A simple new approach to variable selection in regression, with application to genetic fine mapping.Journal of the Royal Statistical Society. Series B, Statistical methodology · 2020
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. The nephrologist of tomorrow: towards a kidney-omic future.Pediatric nephrology (Berlin, Germany) · 2017
    Review
  17. Review
  18. Statistical Methods in Integrative Genomics.Annual review of statistics and its application · 2016
    Article
  19. Article
  20. 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

7 authors.

Leonardo BottoloMRC Clinical Sciences Centre, Imperial College, London W12 0NN UK.
Enrico Petretto
Stefan Blankenberg
François Cambien
Stuart A Cook
Laurence Tiret
Sylvia Richardson

Funding

British Heart Foundation FS/11/25/28740Medical Research Council G1002319Medical Research Council MC_U120097112Wellcome Trust
6 · The paper itself

Abstract

High-throughput genomics allows genome-wide quantification of gene expression levels in tissues and cell types and, when combined with sequence variation data, permits the identification of genetic control points of expression (expression QTL or eQTL). Clusters of eQTL influenced by single genetic polymorphisms can inform on hotspots of regulation of pathways and networks, although very few hotspots have been robustly detected, replicated, or experimentally verified. Here we present a novel modeling strategy to estimate the propensity of a genetic marker to influence several expression traits at the same time, based on a hierarchical formulation of related regressions. We implement this hierarchical regression model in a Bayesian framework using a stochastic search algorithm, HESS, that efficiently probes sparse subsets of genetic markers in a high-dimensional data matrix to identify hotspots and to pinpoint the individual genetic effects (eQTL). Simulating complex regulatory scenarios, we demonstrate that our method outperforms current state-of-the-art approaches, in particular when the number of transcripts is large. We also illustrate the applicability of HESS to diverse real-case data sets, in mouse and human genetic settings, and show that it provides new insights into regulatory hotspots that were not detected by conventional methods. The results suggest that the combination of our modeling strategy and algorithmic implementation provides significant advantages for the identification of functional eQTL hotspots, revealing key regulators underlying pathways.

Indexed as

Bayes TheoremQuantitative Trait LociGene ExpressionHumans

Identifiers

PMID21926303
PMCPMC3241411

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.