Evidence map›Paper›PMID 41380003›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Computationally efficient whole-genome quantile regression at biobank scale.

Fan Wang, Chen Wang, Tianying Wang, Marco Masala, Edoardo Fiorillo, Marcella Devoto, Francesco Cucca, Iuliana Ionita-Laza

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Computationally efficient whole-genome quantile regression at biobank scale.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Fan WangDepartment of Biostatistics, Columbia University, New York, NY 10032, United States.
Chen WangDepartment of Biostatistics, Columbia University, New York, NY 10032, United States.ORCID 0000-0001-9127-0054
Tianying WangDepartment of Statistics, Colorado State University, Fort Collins, CO 80523-1877, United States.ORCID 0000-0002-2826-5364
Marco MasalaInstitute for Genetic and Biomedical Research, National Research Council, Monserrato 09042, Italy.ORCID 0000-0001-5556-9964
Edoardo FiorilloInstitute for Genetic and Biomedical Research, National Research Council, Monserrato 09042, Italy.ORCID 0000-0002-8690-4988
Marcella DevotoInstitute for Genetic and Biomedical Research, National Research Council, Monserrato 09042, Italy.
Francesco CuccaInstitute for Genetic and Biomedical Research, National Research Council, Monserrato 09042, Italy.ORCID 0000-0002-7414-1995
Iuliana Ionita-LazaDepartment of Biostatistics, Columbia University, New York, NY 10032, United States.ORCID 0000-0002-9001-2026

Funding

Novel Statistical methods for DNA Sequencing Data, and applications to Autism.R01MH095797 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IONITA, IULIANA · 2012 to 2022
$3.1M
Multi-omics approaches for gene discovery in Alzheimer's Disease.RF1AG072272 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IONITA, IULIANA, WEI, YING · 2021 to 2021
$1.6M
Multi-omics approaches for gene discovery in Alzheimer's Disease.R01AG072272 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IONITA, IULIANA, WEI, YING · 2024 to 2024
$552k
HHS | NIH | National Institute of Mental Health (NIMH) MH095797HHS | NIH | National Institute on Aging (NIA) AG072272NIA NIH HHS R01 AG072272NIA NIH HHS RF1 AG072272NIMH NIH HHS R01 MH095797
6 · The paper itself

Abstract

Genotype-phenotype associations can be context-dependent and dynamic in nature leading to heterogeneity of genetic effects across different parts of the phenotype distribution. Quantile regression, an alternative to linear regression for continuous phenotypes, is particularly well suited for detecting and characterizing heterogeneous genotype-phenotype associations. Here, we propose a computationally efficient whole-genome quantile regression technique, Regenie.QRS, for biobank-scale genome-wide association studies (GWAS) data with genetic structure. Our approach first estimates the polygenic effect, and then incorporates this effect as an offset in the nonmixed quantile regression model. Our simulations demonstrate robust control of type I error and higher power to detect heterogeneous associations relative to linear regression in GWAS and improved power over the marginal quantile regression tests. We present applications using data from the UK Biobank and the ProgeNIA/SardiNIA project, where we show the advantages of Regenie.QRS in identifying and characterizing heterogeneous genetic effects. To cite just one interesting example, using quantile regression, we are able to show that even though variants at the

Indexed as

Biological Specimen BanksGenome, HumanGenome-Wide Association StudyComputer SimulationHumansModels, GeneticMultifactorial InheritancePhenotypePolymorphism, Single NucleotideRegression Analysiscontext-dependent associationsGWASquantile regression

Identifiers

PMID41380003
PMCPMC12718364

What OpenQuestion holds

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Registered trials

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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.