Evidence map›Paper›PMID 42290910›Full record

ReviewKidney international reports2026

Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.

Rafaella S Barichello, Julia Y Hung, Andrew J Mallett, Ulf Schmitz

Abstract readReview
In one paragraph

Review in Kidney international reports, 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

4 authors.

Rafaella S BarichelloComputational Biomedicine Lab, College of Science and Engineering, James Cook University, Townsville, Queensland, Australia.
Julia Y HungComputational Biomedicine Lab, College of Science and Engineering, James Cook University, Townsville, Queensland, Australia.
Andrew J MallettCollege of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.
Ulf SchmitzComputational Biomedicine Lab, College of Science and Engineering, James Cook University, Townsville, Queensland, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chronic kidney disease (CKD) is a major global health burden, and genetic testing is increasingly used to clarify diagnosis and guide management, particularly in inherited and early-onset disease. Short-read sequencing (SRS), including targeted gene panels, exome sequencing, and genome sequencing, provides diagnostic-grade detection of many exonic single nucleotide variants and small insertions or deletions, but important diagnostic gaps remain in genomic regions that are difficult to resolve with short reads. Long-read sequencing (LRS) addresses several of these limitations by enabling improved detection of structural variants, repeat expansions, and complex or highly homologous loci, and by providing long-range haplotype context. This review focuses on the current and emerging clinical applications of LRS in CKD diagnostics, highlighting scenarios where LRS is most likely to add value beyond SRS, including unresolved suspected monogenic kidney disease and technically challenging genes such as

Indexed as

bioinformaticsgenomic medicinehealth disparitiesmultiomicspersonalized medicine

Identifiers

PMID42290910
PMCPMC13264229

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.