Evidence map›Paper›PMID 39868092›Full record

ArticlebioRxiv : the preprint server for biology2025

Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.

Matt C Danzi, Isaac R L Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Chloe Reuter, Jacinda Sampson, Chiara Folland, Matthew Wheeler and 6 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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. 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. Emerging drivers of DNA repeat expansions.Biochemical Society transactions · 2025
    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

16 authors.

Matt C DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID 0000-0003-1568-5965
Isaac R L XuDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Sarah FazalDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Egor DolzhenkoPacific Biosciences, Menlo Park, CA, USA.
David PellerinDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Ben WeisburdProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9898-9109
Chloe ReuterStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Jacinda SampsonStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Chiara FollandCentre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Matthew WheelerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Stefan WuchtyDepartments of Biology and Computer Science, University of Miami, Miami, FL, USA.
Gianina RavenscroftCentre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Michael A EberlePacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0001-8965-1253
All of Us Research Program Long Read Working Group
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Funding

Creating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbenchR21HG013397 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DANZI, MATTHEW CHRISTOPHER, ZUCHNER, STEPHAN · 2023 to 2023
$422k
NHGRI NIH HHS R21 HG013397
6 · The paper itself

Abstract

Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques

Identifiers

PMID39868092
PMCPMC11760257

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.