Evidence map›Paper›PMID 37905568›Full record

ReviewEmerging topics in life sciences2023

Advances in the discovery and analyses of human tandem repeats.

Mark J P Chaisson, Arvis Sulovari, Paul N Valdmanis, Danny E Miller, Evan E Eichler

Open access · greenAbstract readReview
In one paragraph

Review in Emerging topics in life sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
4.2field-weighted citation impact, top 5% of its field
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

17 citing papers in PubMed, 27 citations in OpenAlex.

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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

5 authors at 4 institutions in 1 country.

Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, U.S.A.
Arvis SulovariComputational Biology, Cajal Neuroscience Inc, Seattle, WA 98102, U.S.A.
Paul N ValdmanisDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.
Danny E MillerDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, U.S.A.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.ORCID 0000-0002-8246-4014
University of Washington · USCajal Neuroscience (United States) · USHoward Hughes Medical Institute · USUniversity of Southern California · US

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Detection and genotyping complex human genetic variation using single-molecule sequencingR01HG011649 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mark Chaisson · 2021 to 2026
$2.5M
Long-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testingDP5OD033357 · OD · UNIVERSITY OF WASHINGTON · PI MILLER, DANNY ERWIN · 2022 to 2025
$1.9M
Novel approaches to identify tandem repeat expansions in neurodegenerative diseaseR01NS122766 · NINDS · UNIVERSITY OF WASHINGTON · PI Paul Nils Valdmanis · 2022 to 2026
$1.9M
Representing structural haplotypes and complex genetic variation in pan-genome graphsU01HG010973 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CHAISSON, MARK, EICHLER, EVAN · 2020 to 2023
$1.3M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG011649NHGRI NIH HHS U01 HG010973NIH HHS DP5 OD033357NIH HHS GR1056892NINDS NIH HHS R01 NS122766
6 · The paper itself

Abstract

Long-read sequencing platforms provide unparalleled access to the structure and composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This review summarizes our current understanding of their organization within the human genome, their importance with respect to disease, as well as the advances and challenges in understanding their genetic diversity and functional effects. Novel computational methods are being developed to visualize and associate these complex patterns of human variation with disease, expression, and epigenetic differences. We predict accurate characterization of this repeat-rich form of human variation will become increasingly relevant to both basic and clinical human genetics.

Indexed as

DNATandem Repeat SequencesEpigenesis, GeneticHumansDNAbioinformaticsdiseasesequencingtandem repeatsvisualization

Identifiers

PMID37905568
PMCPMC10806765
OpenAlexW4388034374

What OpenQuestion 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 OpenQuestion graph.