Evidence map›Paper›PMID 40136321›Full record

ArticleEpigenomes2025

Investigating Single-Molecule Molecular Inversion Probes for Medium-Scale Targeted DNA Methylation Analysis.

Roy B Simons, Hieab H H Adams, Manfred Kayser, Athina Vidaki

Abstract read
In one paragraph

Article in Epigenomes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Forensic genetics in the omics era.Nature reviews. Genetics · 2026
    Review
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

4 authors.

Roy B SimonsDepartment of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0009-0001-4927-2440
Hieab H H AdamsDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0003-3687-2508
Manfred KayserDepartment of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0002-4958-847X
Athina VidakiDepartment of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0002-5470-245X

Funding

Erasmus MC Erasmus MC Fellowship 2020
6 · The paper itself

Abstract

backgroundEpigenetic biomarkers, particularly CpG methylation, are increasingly employed in clinical and forensic settings. However, we still lack a cost-effective, sensitive, medium-scale method for the analysis of hundreds to thousands of user-defined CpGs suitable for minute DNA input amounts (<10 ng). In this study, motivated by promising results in the genetics field, we investigated single-molecule molecular inversion probes (smMIPs) for simultaneous analysis of hundreds of CpGs by using an example set of 514 age-associated CpGs (Zhang model).

methodsFirst, we developed a novel smMIP design tool to suit bisulfite-converted DNA (Locksmith). Then, to optimize the capture process, we performed single-probe capture for ten selected, representative smMIPs. Based on this pilot, the full smMIP panel was tested under varying capture conditions, including hybridization and elongation temperature, smMIP and template DNA amounts, dNTP concentration and elongation time.

resultsOverall, we found that the capture efficiency was highly probe-(and hence, sequence-) dependent, with a heterogeneous coverage distribution across CpGs higher than the 1000-fold range. Considering CpGs with at least 20X coverage, we yielded robust methylation detection with levels comparable to those obtained from the gold standard EPIC microarray analysis (Pearsons's r: 0.96).

conclusionsThe observed low specificity and uniformity indicate that smMIPs in their current form are not compatible with the lowered complexity of bisulfite-converted DNA.

Indexed as

age predictioncaptureDNA methylationepigeneticspadlock probessingle-molecule molecular inversion probesunique molecular identifiers

Identifiers

PMID40136321
PMCPMC11941031

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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.