Evidence map›Paper›PMID 41278868›Full record

ArticlebioRxiv : the preprint server for biology2025

Multi-platform framework for mapping somatic retrotransposition in human tissues.

Seunghyun Wang, Mingyun Bae, Jinhao Wang, Boxun Zhao, Khue Nguyen, Shayna Mallett, Jessica A Switzenberg, Steven J Losh, Corinne E Sexton, Benpeng Miao and 25 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

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

35 authors.

Seunghyun WangDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0001-6132-9254
Mingyun BaeDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0000-8144-476X
Jinhao WangGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0009-0008-7747-1851
Boxun ZhaoDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-2337-5756
Khue NguyenDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0001-3820-168X
Shayna MallettDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-4184-5280
Jessica A SwitzenbergGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0003-4569-3720
Steven J LoshGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0009-0000-5286-4714
Corinne E SextonDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-3767-2794
Benpeng MiaoDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-2070-2339
Shihua DongDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0001-7020-8964
Xi ZengDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-5355-0773
Ziying WangCollege of Informatics, Huazhong Agricultural University, Hongshan District, Wuhan, China.
Torrin L McDonaldGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0001-5670-9375
Camille MummGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0002-7585-9851
Rohini K GaddeDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0001-3573-5803
Arnaz Maryam TariqDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0007-1666-7095
Zhuofu ChenDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.ORCID 0009-0001-9002-7156
William C FengDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0009-0007-1377-4696
Aidan BurnDepartment of Pathology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8162-3389
Junseok ParkDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-2312-9440
Chong ChuDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-0796-2339
Hui ShenDepartment of Epigenetics, Van Andel Research Institute, Grand Rapids, MI, USA.ORCID 0000-0001-9767-4084
Ting WangDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-6800-242X
Alexander E UrbanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0001-9772-933X
Xiaowei ZhuDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0002-5731-3177
Heng LiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-4874-2874
Kathleen H BurnsDepartment of Pathology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-1620-3761
Hye-Jung E ChunDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0009-0005-1911-9487
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-9378-960X
SMaHT MEI Working Group
Alan P BoyleGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0002-2081-1105
Ryan E MillsGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0003-3425-6998
Weichen ZhouGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0003-4755-1072
Eunjung Alice LeeDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-6574-9261

Funding

WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization CenterUM1DA058219 · NIDA · WASHINGTON UNIVERSITY · PI Robert Scott Fulton, Hui Shen · 2023 to 2026
$29.1M
Data Analysis Center for Somatic Mosaicism Across Human Tissues NetworkUM1DA058230 · NIDA · HARVARD MEDICAL SCHOOL · PI Peter J Park · 2023 to 2026
$6.3M
Molecular and Computational Tools for Identifying Somatic Mosaicism in Human TissuesUH3NS132084 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Alan P Boyle, RYAN E MILLS · 2025 to 2026
$1.3M
Establishing and benchmarking advanced methods to comprehensively characterize somatic genome variation in single human cellsUH3NS132146 · NINDS · STANFORD UNIVERSITY · PI Alexander Eckehart Urban · 2025 to 2026
$1.2M
Establishing and benchmarking advanced methods to comprehensively characterize somatic genome variation in single human cellsUG3NS132146 · NINDS · STANFORD UNIVERSITY · PI URBAN, ALEXANDER ECKEHART, VACCARINO, FLORA M · 2023 to 2024
$922k
Single Molecule Detection of L1 Insertions and IntermediatesUG3NS132127 · NINDS · DANA-FARBER CANCER INST · PI BERNSTEIN, BRADLEY EVAN, BURNS, KATHLEEN H · 2023 to 2024
$879k
Molecular and Computational Tools for Identifying Somatic Mosaicism in Human TissuesUG3NS132084 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P, MILLS, RYAN E · 2023 to 2024
$789k
NIDA NIH HHS UM1 DA058219NIDA NIH HHS UM1 DA058230NINDS NIH HHS UG3 NS132084NINDS NIH HHS UG3 NS132127NINDS NIH HHS UG3 NS132146NINDS NIH HHS UH3 NS132084NINDS NIH HHS UH3 NS132146
6 · The paper itself

Abstract

Mobile element insertions (MEI) shape the human genome in both germline and somatic tissues. While inherited MEIs are well characterized, mapping somatic MEIs (sMEI) in non-cancer tissues remains challenging due to their low allelic fraction and repetitive nature. We established an integrative framework for sMEI analysis leveraging modern sequencing technologies and analytical innovations. We first benchmarked sMEI detection and demonstrated advantages of long-read and MEI-targeted sequencing for ultra-low-frequency events using a mixture of well-established cell lines. We then showed that haplotype phasing and donor-specific assemblies refine sMEI detection, effectively distinguishing from germline and false signals in

Identifiers

PMID41278868
PMCPMC12632373

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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.