Evidence map›Paper›PMID 41648398›Full record

ArticlebioRxiv : the preprint server for biology2026

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome.

Hunter L Colegrove, Marianne E Dubard-Gault, Henry Marshall, Brendan F Kohrn, Thomas H Smith, Zachary K Norgaard, Fang Yin Lo, Elizabeth K Schmidt, Jacob E Higgins, Charles C Valentine and 8 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 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

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

18 authors.

Hunter L ColegroveDepartment of Genome Sciences, University of Washington; Seattle, WA, USA.ORCID 0000-0002-6660-8460
Marianne E Dubard-GaultFred Hutchinson Cancer Center; Seattle, WA, USA.
Henry MarshallWellcome Sanger Institute; Hinxton, UK.
Brendan F KohrnDepartment of Laboratory Medicine and Pathology, University of Washington; Seattle, WA, USA.ORCID 0000-0001-9948-2131
Thomas H SmithTwinStrand Biosciences; Seattle, WA, USA.
Zachary K NorgaardTwinStrand Biosciences; Seattle, WA, USA.
Fang Yin LoTwinStrand Biosciences; Seattle, WA, USA.
Elizabeth K SchmidtTwinStrand Biosciences; Seattle, WA, USA.
Jacob E HigginsTwinStrand Biosciences; Seattle, WA, USA.
Charles C ValentineTwinStrand Biosciences; Seattle, WA, USA.
Desiree A MarshallDepartment of Laboratory Medicine and Pathology, University of Washington; Seattle, WA, USA.
John I ClarkDepartment of Neurobiology & Biophysics, University of Washington; Seattle, WA, USA.
Eric Q KonnickDepartment of Laboratory Medicine and Pathology, University of Washington; Seattle, WA, USA.
Jesse J SalkTwinStrand Biosciences; Seattle, WA, USA.
Marshall S HorwitzDepartment of Laboratory Medicine and Pathology, University of Washington; Seattle, WA, USA.ORCID 0000-0002-1683-1680
Raheleh RahbariWellcome Sanger Institute; Hinxton, UK.
Alison F FederDepartment of Genome Sciences, University of Washington; Seattle, WA, USA.ORCID 0000-0003-2915-089X
Rosa Ana RisquesDepartment of Laboratory Medicine and Pathology, University of Washington; Seattle, WA, USA.ORCID 0000-0002-0291-1858

Funding

Understanding the role of TP53 mutation in genetic susceptibility to ovarian cancerR01CA259384 · NCI · UNIVERSITY OF WASHINGTON · PI RISQUES, ROSA ANA · 2021 to 2025
$2.8M
A phylodynamic time machine for solid tumorsDP2CA280623 · NCI · UNIVERSITY OF WASHINGTON · PI FEDER, ALISON F · 2022 to 2025
$2.3M
NCI NIH HHS DP2 CA280623NCI NIH HHS R01 CA259384
6 · The paper itself

Abstract

Li-Fraumeni Syndrome (LFS) is caused by germline pathogenic variants in

Indexed as

clonal expansionduplex sequencingmutational signaturesselectionsomatic mutationsTP53 mutations

Identifiers

PMID41648398
PMCPMC12871109

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.