Evidence map›Paper›PMID 42431713›Full record

ArticleGenome research2026

Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.

Kristen Schneider, Murad Chowdhury, Mariano Tepper, Jawad B Khan, Jonathan A Shortt, Chris Gignoux, Ryan M Layer

Abstract read
In one paragraph

Article in Genome research, 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

5 · Who and what money

Authors and funding

7 authors.

Kristen Schneider *Computer Science Department, University of Colorado, Boulder, Colorado 80309, USA.ORCID http://orcid.org/0009-0004-4757-4500
Murad Chowdhury *BioFrontiers Institute, University of Colorado, Boulder, Colorado 80303, USA; murad.chowdhury@colorado.edu.ORCID http://orcid.org/0000-0003-4249-1680
Mariano TepperIntel Labs, Hillsboro, Oregon 97124, USA.ORCID http://orcid.org/0000-0001-6053-925X
Jawad B KhanIntel Labs, Hillsboro, Oregon 97124, USA.
Jonathan A ShorttColorado Center for Personalized Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045, USA.ORCID http://orcid.org/0000-0002-7980-5420
Chris GignouxColorado Center for Personalized Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045, USA.
Ryan M LayerComputer Science Department, University of Colorado, Boulder, Colorado 80309, USA.ORCID http://orcid.org/0000-0002-5823-3232

Funding

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural VariantsR01HG011774 · NHGRI · UNIVERSITY OF COLORADO · PI Ryan M Layer · 2022 to 2026
$2.9M
NHGRI NIH HHS R01 HG011774
6 · The paper itself

Abstract

Many patients do not experience optimal benefits from medical advances because clinical research does not adequately represent them. Although the diversity of biomedical research cohorts is improving, ensuring that individual patients are adequately represented remains challenging. We propose a new approach, GenoSiS, which leverages machine learning-based similarity search to dynamically find patient-matched cohorts across different populations quickly. These cohorts could serve as reference cohorts to improve a range of clinical analyses, including disease risk score calculations and dosage decisions. Although GenoSiS focuses on finding genetic similarity within a biobank, our similarity search architecture can be extended to represent other medically relevant patient characteristics and search other biobanks.

Indexed as

Biological Specimen BanksGenotypeCohort StudiesHumansMachine Learning

Identifiers

PMID42431713
PMCPMC13431173

What Socratic holds

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LicenceCC BY
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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 Socratic graph.