Evidence map›Paper›PMID 38407446›Full record

ArticleNucleic acids research2024

Low-input and single-cell methods for Infinium DNA methylation BeadChips.

Sol Moe Lee, Christian E Loo, Rexxi D Prasasya, Marisa S Bartolomei, Rahul M Kohli, Wanding Zhou

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
5.1field-weighted citation impact, top 4% of its field
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

19 citing papers in PubMed, 22 citations in OpenAlex.

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  4. Ultra-low oxygen tension duringbioRxiv : the preprint server for biology · 2026
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  5. DNA Methylation-Based Risk Stratification and Classification of Pediatric Thyroid Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Sol Moe LeeCenter for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, PA 19104, USA.ORCID 0000-0002-6935-462X
Christian E LooGraduate Group in Biochemistry and Biophysics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rexxi D PrasasyaDepartment of Cell and Developmental Biology, Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Marisa S BartolomeiDepartment of Cell and Developmental Biology, Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Rahul M KohliDepartment of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Wanding ZhouCenter for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, PA 19104, USA.ORCID 0000-0001-9126-1932
University of Pennsylvania · USChildren's Hospital of Philadelphia · US

Funding

Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI A. Clementina Mesaros · 2006 to 2026
$35.3M
Decoding Single-cell DNA Methylomes for Epigenetic Cell IdentityR35GM146978 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI Wanding Zhou · 2022 to 2026
$2.2M
Role of TET1 in germ cell reprogramming and developmentR01GM146388 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARTOLOMEI, MARISA S. · 2022 to 2025
$1.2M
Molecular determinants of sex-specific DNA methylation signature acquisition in the mammalian germlineK99HD112543 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI PRASASYA, REXXI DIPTYA · 2023 to 2024
$240k
Investigation of the role of TET proteins in epigenetic reprogramming and establishment of germline imprintingF32HD101230 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI PRASASYA, REXXI DIPTYA · 2020 to 2022
$208k
Advancing Epigenetic Sequencing Through Solid-Phase Enzymatic ApproachesF31HG012892 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI LOO, CHRISTIAN ETHAN · 2023 to 2024
$95k
NHGRI NIH HHS F31 HG012892NICHD NIH HHS F32 HD101230NICHD NIH HHS K99 HD112543NIEHS NIH HHS P30 ES013508NIGMS NIH HHS R01 GM146388NIGMS NIH HHS R35 GM146978
6 · The paper itself

Abstract

The Infinium BeadChip is the most widely used DNA methylome assay technology for population-scale epigenome profiling. However, the standard workflow requires over 200 ng of input DNA, hindering its application to small cell-number samples, such as primordial germ cells. We developed experimental and analysis workflows to extend this technology to suboptimal input DNA conditions, including ultra-low input down to single cells. DNA preamplification significantly enhanced detection rates to over 50% in five-cell samples and ∼25% in single cells. Enzymatic conversion also substantially improved data quality. Computationally, we developed a method to model the background signal's influence on the DNA methylation level readings. The modified detection P-value calculation achieved higher sensitivities for low-input datasets and was validated in over 100 000 public diverse methylome profiles. We employed the optimized workflow to query the demethylation dynamics in mouse primordial germ cells available at low cell numbers. Our data revealed nuanced chromatin states, sex disparities, and the role of DNA methylation in transposable element regulation during germ cell development. Collectively, we present comprehensive experimental and computational solutions to extend this widely used methylation assay technology to applications with limited DNA.

Indexed as

DNA MethylationSingle-Cell AnalysisAnimalsCpG IslandsDNAEpigenomicsFemaleGerm CellsHumansMaleMiceOligonucleotide Array Sequence AnalysisDNA

Identifiers

PMID38407446
PMCPMC11040145
OpenAlexW4392168904

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.