Evidence map›Paper›PMID 37172561›Full record

ReviewCell2023

Quality control and analytic best practices for testing genetic models of sex differences in large populations.

Ekaterina A Khramtsova, Melissa A Wilson, Joanna Martin, Stacey J Winham, Karen Y He, Lea K Davis, Barbara E Stranger

Abstract readReview
In one paragraph

Review in Cell, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 3 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

37 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  18. Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors.medRxiv : the preprint server for health sciences · 2025
    Article
  19. Article
  20. Sex differences in gene regulation and its impact on cancer incidence.bioRxiv : the preprint server for biology · 2025
    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.

Ekaterina A KhramtsovaPopulation Analytics and Insights, Data Science Analytics & Insights, Janssen R&D, Lower Gwynedd Township, PA, USA. Electronic address: ekhramts@its.jnj.com.
Melissa A WilsonSchool of Life Sciences, Center for Evolution and Medicine, Biodesign Center for Mechanisms of Evolution, Arizona State University, Tempe, AZ 85282, USA.
Joanna MartinCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Stacey J WinhamDepartment of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Karen Y HePopulation Analytics and Insights, Data Science Analytics & Insights, Janssen R&D, Lower Gwynedd Township, PA, USA.
Lea K DavisDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
Barbara E StrangerCenter for Genetic Medicine, Department of Pharmacology, Northwestern University, Chicago, IL, USA. Electronic address: barbara.stranger@northwestern.edu.

Funding

Genetic mechanisms underlying sexual dimorphism in cancer and response to therapyR01CA229618 · NCI · UNIVERSITY OF COLORADO DENVER · PI HUANG, RONG STEPHANIE, STRANGER, BARBARA E · 2019 to 2024
$2.9M
Population dynamics and medical consequences of sex chromosome evolutionR35GM124827 · NIGMS · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI WILSON, MELISSA A · 2017 to 2024
$2.7M
Elucidating the phenome-wide impact of sex and gender on diseaseR01HG011405 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DAVIS, LEA K, STRANGER, BARBARA E · 2021 to 2024
$1.9M
NCI NIH HHS R01 CA229618NHGRI NIH HHS R01 HG011405NIGMS NIH HHS R35 GM124827
6 · The paper itself

Abstract

Phenotypic sex-based differences exist for many complex traits. In other cases, phenotypes may be similar, but underlying biology may vary. Thus, sex-aware genetic analyses are becoming increasingly important for understanding the mechanisms driving these differences. To this end, we provide a guide outlining the current best practices for testing various models of sex-dependent genetic effects in complex traits and disease conditions, noting that this is an evolving field. Insights from sex-aware analyses will not only teach us about the biology of complex traits but also aid in achieving the goals of precision medicine and health equity for all.

Indexed as

Models, GeneticSex CharacteristicsAnimalsFemaleGene-Environment InteractionGenome-Wide Association StudyGuidelines as TopicHumansMaleMultifactorial InheritancePhenotypeQuality Controlanalytical methodscomplex traitsgenetic analysesquality controlsex as a biological variablesex chromosomessex differences

Identifiers

PMID37172561
PMCPMC10266536

What OpenQuestion holds

Textmetadata
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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.