Evidence map›Paper›PMID 38796686›Full record

ArticleBioinformatics (Oxford, England)2024

SuPreMo: a computational tool for streamlining in silico perturbation using sequence-based predictive models.

Ketrin Gjoni, Katherine S Pollard

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Machine learning reveals sequence and genomic context features underlyingbioRxiv : the preprint server for biology · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Ketrin GjoniInstitute of Data Science and Biotechnology, Gladstone Institutes, 1650 Owens Street, San Francisco, CA 94158, United States.
Katherine S PollardInstitute of Data Science and Biotechnology, Gladstone Institutes, 1650 Owens Street, San Francisco, CA 94158, United States.ORCID 0000-0002-9870-6196

Funding

Genetic determinants of 4D genome folding in human cardiac developmentU01HL157989 · NHLBI · J. DAVID GLADSTONE INSTITUTES · PI BRUNEAU, BENOIT GAETAN, POLLARD, KATHERINE S. · 2020 to 2024
$3.8M
Deciphering the 3D genome of pediatric brain tumorsR03OD034499 · OD · WEILL MEDICAL COLL OF CORNELL UNIV · PI DAHMANE, NADIA, POLLARD, KATHERINE S. · 2022 to 2022
$391k
Additional Ventures, and Gladstone InstitutesNHLBI NIH HHS U01 HL157989NIH HHS R03 OD034499NIH HHS R03OD034499
6 · The paper itself

Abstract

summaryThe increasing development of sequence-based machine learning models has raised the demand for manipulating sequences for this application. However, existing approaches to edit and evaluate genome sequences using models have limitations, such as incompatibility with structural variants, challenges in identifying responsible sequence perturbations, and the need for vcf file inputs and phased data. To address these bottlenecks, we present Sequence Mutator for Predictive Models (SuPreMo), a scalable and comprehensive tool for performing and supporting in silico mutagenesis experiments. We then demonstrate how pairs of reference and perturbed sequences can be used with machine learning models to prioritize pathogenic variants or discover new functional sequences. AVAILABILITY AND IMPLEMENTATION: SuPreMo was written in Python, and can be run using only one line of code to generate both sequences and 3D genome disruption scores. The codebase, instructions for installation and use, and tutorials are on the GitHub page: https://github.com/ketringjoni/SuPreMo.

Indexed as

Machine LearningSoftwareComputational BiologyComputer SimulationHumansMutagenesis

Identifiers

PMID38796686
PMCPMC11153836

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.