Evidence map›Paper›PMID 41890990›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Separating the genetics of disease, treatment, and treatment response using graphical modeling and large-scale electronic health records.

Malgorzata Borczyk, Nick Machnik, Jacek Hajto, Ilse Krätschmer, Paula Konowalska, Bartosz Baszkiewicz, Michal Korostynski, Matthew R Robinson

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Malgorzata BorczykInstitute Of Science and Technology Austria, Am Campus 1, Klosterneuburg, 3400, Austria.ORCID 0000-0002-4304-8384
Nick MachnikInstitute Of Science and Technology Austria, Am Campus 1, Klosterneuburg, 3400, Austria.ORCID 0000-0001-6617-9742
Jacek HajtoLaboratory of Pharmacogenomics, Maj Institute of Pharmacology PAS, Smetna 12, Krakow, 31-343, Poland.ORCID 0000-0002-7103-4246
Ilse KrätschmerInstitute Of Science and Technology Austria, Am Campus 1, Klosterneuburg, 3400, Austria.ORCID 0000-0002-5636-9259
Paula KonowalskaLaboratory of Pharmacogenomics, Maj Institute of Pharmacology PAS, Smetna 12, Krakow, 31-343, Poland.
Bartosz BaszkiewiczLaboratory of Pharmacogenomics, Maj Institute of Pharmacology PAS, Smetna 12, Krakow, 31-343, Poland.
Michal KorostynskiLaboratory of Pharmacogenomics, Maj Institute of Pharmacology PAS, Smetna 12, Krakow, 31-343, Poland.ORCID 0000-0002-4273-7401
Matthew R RobinsonInstitute Of Science and Technology Austria, Am Campus 1, Klosterneuburg, 3400, Austria.ORCID 0000-0001-8982-8813

Funding

Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7M
Precision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5M
Enhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7M
Adaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6M
University of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9M
California Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4M
All of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1M
New York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3M
SouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8M
Southern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5M
Illinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5M
The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196
6 · The paper itself

Abstract

Genetic variants affect baseline health and biomarker values, which in turn may impact both the therapy selected for an individual and the magnitude of change induced by the medication. Here, we propose an approach for complex longitudinal repeated measures biobank data, which separates genetic effects for disease from the genetic effects for medication usage and those for treatment response. For 211,845 individuals, we construct a pre-post study design from 1,420,443 repeated blood pressure (BP) measurements and 1,117,900 prescription records for common BP influencing drugs, using electronic health records. We model these jointly alongside 8,430,446 imputed single nucleotide polymorphism (SNP) markers and 17,852 whole-exome sequence loss-of-function (LoF) variants, all within a single novel graphical modeling framework. We identify pharmacogenetic candidate SNPs and LoF variants in genes

Indexed as

complex traitdrug responseGWASpharmacogenomics

Identifiers

PMID41890990
PMCPMC13015664

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.