Evidence map›Paper›PMID 40502148›Full record

ArticlebioRxiv : the preprint server for biology2025

Focus on single gene effects limits discovery and interpretation of complex trait-associated variants.

Kathryn Lawrence, Tami Gjorgjieva, Stephen B Montgomery

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

5 · Who and what money

Authors and funding

3 authors.

Kathryn LawrenceDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Tami GjorgjievaDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Stephen B MontgomeryDepartment of Genetics, Stanford University School of Medicine, Stanford, California.

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
Multi-omic functional assessment of novel AD variants using high-throughput and single-cell technologiesU01AG072573 · NIA · STANFORD UNIVERSITY · PI KUNDAJE, ANSHUL, MONTGOMERY, STEPHEN · 2021 to 2025
$8.3M
Predicting context-specific molecular and phenotypic effects of genetic variation through the lens of the cis-regulatory codeU01HG012069 · NHGRI · STANFORD UNIVERSITY · PI Anshul Kundaje · 2021 to 2026
$3.9M
NHGRI NIH HHS T32 HG000044NHGRI NIH HHS U01 HG012069NIA NIH HHS U01 AG072573
6 · The paper itself

Abstract

Standard QTL mapping approaches consider variant effects on a single gene at a time, despite abundant evidence for allelic pleiotropy, where a single variant can affect multiple genes simultaneously. While allelic pleiotropy describes variant effects on both local and distal genes or a mixture of molecular effects on a single gene, here we specifically investigate allelic expression "proxitropy": where a single variant influences the expression of multiple, neighboring genes. We introduce a multi-gene eQTL mapping framework-

Identifiers

PMID40502148
PMCPMC12157471

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.