Evidence map›Paper›PMID 38965568›Full record

ArticleGenome biology2024

LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.

Helyaneh Ziaei Jam, Justin M Zook, Sara Javadzadeh, Jonghun Park, Aarushi Sehgal, Melissa Gymrek

Abstract read
In one paragraph

Article in Genome biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 1 pooled it
–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

29 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  19. Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Helyaneh Ziaei JamDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Justin M ZookMaterial Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, USA.ORCID 0000-0003-2309-8402
Sara JavadzadehDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Jonghun ParkDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-0001-0554
Aarushi SehgalDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Melissa GymrekDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA. mgymrek@ucsd.edu.ORCID 0000-0002-6086-3903

Funding

Refining Mendelian disease analysis via detection of clinically relevant repeat variantsR01HG010149 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna, Vikas Bansal · 2018 to 2026
$4.5M
The role of structural variants and tandem repeats in substance abuse-related behavioral traitsU01DA051234 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA, PALMER, ABRAHAM A · 2021 to 2025
$3.5M
Computational methods for detecting patterns of complex genomic variationR01GM114362 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna · 2016 to 2026
$3.1M
Intramural Research Program, National Institute on Drug Abuse U01DA051234NHGRI NIH HHS 1R01HG010149NHGRI NIH HHS R01 HG010149NIDA NIH HHS U01 DA051234NIGMS NIH HHS R01 GM114362
6 · The paper itself

Abstract

Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve tandem repeat analysis, especially for long or complex repeats. Here, we introduce LongTR, which accurately genotypes tandem repeats from high-fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https://github.com/gymrek-lab/longtr and https://zenodo.org/doi/10.5281/zenodo.11403979 .

Indexed as

Genetic VariationGenome, HumanTandem Repeat SequencesHigh-Throughput Nucleotide SequencingHumansNanopore SequencingSequence Analysis, DNASoftwareLong readsMicrosatellitesTandem repeats

Identifiers

PMID38965568
PMCPMC11229021

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.