Evidence map›Paper›PMID 34224641›Full record

ArticleGenetic epidemiology2021

The X factor: A robust and powerful approach to X-chromosome-inclusive whole-genome association studies.

Bo Chen, Radu V Craiu, Lisa J Strug, Lei Sun

Open access · bronzeAbstract read
In one paragraph

Article in Genetic epidemiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 2 pooled it
7.1field-weighted citation impact, top 3% 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

31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.

  1. Pooled it
  2. Association ofCancer genomics & proteomics
    Pooled it
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  11. Genetic and Epigenetic Association ofInternational journal of molecular sciences · 2024
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  16. The impact of chromosomal sex on cardiometabolic health and disease.Trends in endocrinology and metabolism: TEM · 2023
    Review
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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

4 authors at 1 institution in 1 country.

Bo ChenDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-5916-4443
Radu V CraiuDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.
Lisa J StrugDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.
Lei SunDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-5640-937X
University of Toronto · CA

Funding

CIHR MOP-258916CIHR MOP-310732
6 · The paper itself

Abstract

The X-chromosome is often excluded from genome-wide association studies because of analytical challenges. Some of the problems, such as the random, skewed, or no X-inactivation model uncertainty, have been investigated. Other considerations have received little to no attention, such as the value in considering nonadditive and gene-sex interaction effects, and the inferential consequence of choosing different baseline alleles (i.e., the reference vs. the alternative allele). Here we propose a unified and flexible regression-based association test for X-chromosomal variants. We provide theoretical justifications for its robustness in the presence of various model uncertainties, as well as for its improved power when compared with the existing approaches under certain scenarios. For completeness, we also revisit the autosomes and show that the proposed framework leads to a more robust approach than the standard method. Finally, we provide supporting evidence by revisiting several published association studies. Supporting Information for this article are available online.

Indexed as

Genome-Wide Association StudyModels, GeneticAllelesChromosomesHumansX Chromosome Inactivationconfoundingdominanceinteractionmodel uncertaintyregression

Identifiers

PMID34224641
PMCPMC9292551
OpenAlexW3181197111

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.