Evidence map›Paper›PMID 25707927›Full record

ReviewNature reviews. Genetics2015

The role of regulatory variation in complex traits and disease.

Frank W Albert, Leonid Kruglyak

Open access · bronzeAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 627 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
627citing papers in PubMed, 3 pooled it
57.4field-weighted citation impact, top 1% 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

627 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,155 citations in OpenAlex.

  1. Pooled it
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567 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

Frank W Albert1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA.
Leonid Kruglyak1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA. [3] Howard Hughes Medical Institute, University of California, Los Angeles, California 90095, USA.
University of California, Los Angeles · US

Funding

Howard Hughes Medical Institute
6 · The paper itself

Abstract

We are in a phase of unprecedented progress in identifying genetic loci that cause variation in traits ranging from growth and fitness in simple organisms to disease in humans. However, a mechanistic understanding of how these loci influence traits is lacking for the majority of loci. Studies of the genetics of gene expression have emerged as a key tool for linking DNA sequence variation to phenotypes. Here, we review recent insights into the molecular nature of regulatory variants and describe their influence on the transcriptome and the proteome. We discuss conceptual advances from studies in model organisms and present examples of complete chains of causality that link individual polymorphisms to changes in gene expression, which in turn result in physiological changes and, ultimately, disease risk.

Indexed as

Gene Expression RegulationQuantitative Trait LociDiseaseGenetic Predisposition to DiseaseHumansModels, GeneticPolymorphism, Genetic

Identifiers

PMID25707927
OpenAlexW1993616000

What Socratic 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 Socratic graph.