Evidence map›Paper›PMID 42260311›Full record

ArticleNature methods2026

A scalable approach to investigating sequence-to-function predictions from personal genomes.

Anna E Spiro, Xinming Tu, Yilun Sheng, Alexander Sasse, Rezwan Hosseini, Maria Chikina, Sara Mostafavi

Abstract read
In one paragraph

Article in Nature methods, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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.

Anna E Spiro *Paul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-3465-4606
Xinming Tu *Paul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0009-0004-0833-6876
Yilun ShengPaul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA.
Alexander SassePaul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA.
Rezwan HosseiniDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0001-6207-4628
Maria ChikinaDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-2550-5403
Sara MostafaviPaul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA. saramos@cs.washington.edu.ORCID http://orcid.org/0000-0003-4698-1177

Funding

Sequence-to-function models for mechanistic investigations of personal genomesR01HG013724 · NHGRI · UNIVERSITY OF WASHINGTON · PI CHIKINA, MARIA D, MOSTAFAVI, SARA · 2025 to 2025
$2.2M
DH | National Institute for Health Research (NIHR) R01HG013724
6 · The paper itself

Abstract

Sequence-to-function (S2F) models can evaluate arbitrary DNA sequences, yet they struggle to fully capture inter-individual variation in gene expression. We introduce SAGE-net, a scalable framework for training and evaluating S2F models using personal genomes. While personal genome training improves gene expression prediction accuracy for held-out individuals, performance gains arise primarily from identifying predictive variants rather than learning a cis-regulatory grammar that generalizes across loci. Scalable software will be critical to advancing S2F models for personal genomics.

Indexed as

Genome, HumanGenomicsSequence Analysis, DNAHumansModels, GeneticPrediction AlgorithmsSoftware

Identifiers

PMID42260311
PMCPMC13345963

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.