Evidence mapPaperPMID 41779869Full record

ArticleScience translational medicine2026

Cell-free DNA fragmentomes for noninvasive detection of liver cirrhosis and other diseases.

Akshaya V Annapragada, Zachariah H Foda, Hope Orjuela, Carter Norton, Shashikant Koul, Noushin Niknafs, Sarah Short, Keerti Boyapati, Adrianna Bartolomucci, Dimitrios Mathios and 27 more

Abstract read
In one paragraph

Article in Science translational medicine, 2026. 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. Article
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

37 authors.

Akshaya V AnnapragadaSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-9097-6511
Zachariah H FodaSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-3591-8482
Hope OrjuelaSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0001-8458-8080
Carter NortonSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0009-0001-4991-6998
Shashikant KoulSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-9690-7349
Noushin NiknafsSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-4852-3674
Sarah ShortSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-2319-6360
Keerti BoyapatiSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Adrianna BartolomucciSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Dimitrios MathiosDepartment of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-0792-6880
Michael NoëSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-5336-4508
Chris CherrySidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-5481-0055
Jacob CareyDelfi Diagnostics, Baltimore, MD 21231, USA.ORCID 0000-0001-9462-206X
Alessandro LealDelfi Diagnostics, Baltimore, MD 21231, USA.ORCID 0000-0001-7967-3213
Bryan ChesnickDelfi Diagnostics, Baltimore, MD 21231, USA.ORCID 0009-0007-9644-6187
Nicholas C DracopoliDelfi Diagnostics, Baltimore, MD 21231, USA.ORCID 0000-0003-3962-4059
Jamie E MedinaDelfi Diagnostics, Baltimore, MD 21231, USA.ORCID 0000-0002-6124-0548
Nicholas A VulpescuSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-1310-0257
Daniel C BruhmSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-8436-501X
Sarah BacusSeq Biomarque LLC, Brea, CA 92821, USA.
Vilmos AdleffSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Amy K KimSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0001-6121-9581
Stephen B BaylinSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-3697-3798
Gregory D KirkDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-7829-1405
Andrei SoropCenter of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328, Bucharest, Romania.ORCID 0000-0002-2617-4629
Razvan IacobCenter of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328, Bucharest, Romania.ORCID 0000-0002-8545-310X
Speranta IacobCenter of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328, Bucharest, Romania.ORCID 0000-0002-7805-5920
Liana GheorgheCenter of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328, Bucharest, Romania.
Simona DimaCenter of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328, Bucharest, Romania.ORCID 0000-0001-5275-8938
Manuel Ramírez-ZeaResearch Center for the Prevention of Chronic Diseases, Institute of Nutrition of Central American and Panama (INCAP), 01011, Guatemala City, Guatemala.ORCID 0000-0001-5107-9175
Katherine A McGlynnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA.ORCID 0000-0003-2329-9933
Claus L FeltoftDepartment of Medicine, Copenhagen University Hospital-Herlev and Gentofte, 2730, Herlev, Denmark.
Julia S JohansenDepartment of Medicine, Copenhagen University Hospital-Herlev and Gentofte, 2730, Herlev, Denmark.ORCID 0000-0002-4217-6560
John GroopmanSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-4690-2133
Jillian PhallenSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-5492-9013
Robert B ScharpfSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-4702-2656
Victor E VelculescuSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0003-1195-438X

Funding

DNA evaluation of fragments for early interception (DELFI) of Lung cancerU01CA271896 · JOHNS HOPKINS UNIVERSITY · 2025 to 2025
$1.0M
NCI NIH HHS R01 CA121113NCI NIH HHS U01 CA271896
6 · The paper itself

Abstract

Accessible liquid biopsies, including analyses of genome-wide cell-free DNA (cfDNA) fragmentation, are emerging for early detection of cancer but remain largely unexplored in other diseases. Here, we used whole-genome sequencing to examine cfDNA fragmentomes in 1576 individuals, including those with liver disease or with other morbidities such as vascular, autoimmune, and neurodegenerative conditions. As a prototype for disease-specific cfDNA fragmentomic biomarkers, we developed a machine learning classifier that detected early liver disease, advanced fibrosis, and cirrhosis with high sensitivity in separate discovery (

Indexed as

Cell-Free Nucleic AcidsLiver CirrhosisBiomarkersFemaleHumansMachine LearningMaleMiddle AgedBiomarkersCell-Free Nucleic Acids

Identifiers

PMID41779869
PMCPMC13255278

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.