Evidence map›Paper›PMID 41959501›Full record

ArticlebioRxiv : the preprint server for biology2026

A family portrait of the genomic factors shaping tandem repeat mutagenesis.

Thomas A Sasani, Michael E Goldberg, Akshay K Avvaru, Thomas J Nicholas, Deborah W Neklason, Egor Dolzhenko, Tom Mokveld, Katherine M Munson, Kendra Hoekzema, Marcelo Ayllon and 12 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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

22 authors.

Thomas A SasaniDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-2317-1374
Michael E GoldbergDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-3310-6349
Akshay K AvvaruDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0000-0003-4698-9363
Thomas J NicholasDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-4198-6414
Deborah W NeklasonDepartment of Internal Medicine, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-4546-7080
Egor DolzhenkoPacBio, Menlo Park, California, USA.
Tom MokveldPacBio, Menlo Park, California, USA.ORCID 0000-0003-1905-5442
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8058-0177
Marcelo AyllonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0360-5446
Eli J KaufmanDivision of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8553-210X
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Zev KronenbergPacBio, Menlo Park, California, USA.ORCID 0000-0002-7627-9808
Guilherme de Sena BrandinePacBio, Menlo Park, California, USA.ORCID 0000-0003-0595-1860
William J RowellPacBio, Menlo Park, California, USA.ORCID 0000-0002-7422-1194
Lynn B JordeDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-0606-1862
Christopher E MasonDepartment of Systems and Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.ORCID 0000-0002-1850-1642
Michael A EberlePacBio, Menlo Park, California, USA.ORCID 0000-0001-8965-1253
Paul N ValdmanisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8840-6969
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Aaron R QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-1756-0859
Harriet DashnowDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-8433-6270

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Human Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Revealing new short tandem repeat variation in the human population across sequencing technologies: towards rare disease diagnosis and discoveryR00HG012796 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI Harriet Dashnow · 2024 to 2026
$747k
From genomics to natural language processing: A protected environment for research computing in the health scienceS10OD021644 · OD · UNIVERSITY OF UTAH · PI CHEATHAM, THOMAS E. · 2017 to 2017
$494k
NHGRI NIH HHS R00 HG012796NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NIGMS NIH HHS R35 GM118335NIH HHS S10 OD021644
6 · The paper itself

Abstract

Tandem repeats (TRs) are among the most mutable loci in the human genome, but the genomic determinants of TR mutagenesis remain mysterious. We used PacBio HiFi long-read sequencing to profile nearly eight million TR loci in 28 members of a large, four-generation CEPH/Utah family designated K1463. We identified 1,270

Identifiers

PMID41959501
PMCPMC13060803

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.