Evidence map›Paper›PMID 41672886›Full record

ArticleGenome research2026

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications.

Judith Arres, Santosh Elavalli, Shalini Behl, Daniel Matias Sanchez, Ayesha Al Ali, Abdelrahman Ahmed Yehia Abdelaziz Saad, Azza Attia, Cyla Minas, Sharika Pariyachery, Shariq Ahmed and 18 more

Abstract read
In one paragraph

Article in Genome research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

28 authors.

Judith Arres *M42, Abu Dhabi, United Arab Emirates.ORCID 0009-0009-7674-5790
Santosh Elavalli *M42, Abu Dhabi, United Arab Emirates.ORCID 0000-0002-9705-0981
Shalini BehlM42, Abu Dhabi, United Arab Emirates.
Daniel Matias SanchezM42, Abu Dhabi, United Arab Emirates.ORCID 0000-0003-4760-6512
Ayesha Al AliM42, Abu Dhabi, United Arab Emirates.
Abdelrahman Ahmed Yehia Abdelaziz SaadM42, Abu Dhabi, United Arab Emirates.
Azza AttiaM42, Abu Dhabi, United Arab Emirates.
Cyla MinasM42, Abu Dhabi, United Arab Emirates.
Sharika PariyacheryM42, Abu Dhabi, United Arab Emirates.
Shariq AhmedM42, Abu Dhabi, United Arab Emirates.
Fatmah AldhuhooriM42, Abu Dhabi, United Arab Emirates.
Nitu ThulasidharanM42, Abu Dhabi, United Arab Emirates.
Gurunath KatagiM42, Abu Dhabi, United Arab Emirates.
Omar SolimanM42, Abu Dhabi, United Arab Emirates.
Shilp PurohitM42, Abu Dhabi, United Arab Emirates.
Vinay KusumaM42, Abu Dhabi, United Arab Emirates.
Raony CardenasM42, Abu Dhabi, United Arab Emirates.
Thyago CardosoM42, Abu Dhabi, United Arab Emirates.
Luis F PaulinHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.ORCID 0000-0003-2567-3773
Philippe SanioHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
Joseph MafofoM42, Abu Dhabi, United Arab Emirates.
Haiguo WuM42, Abu Dhabi, United Arab Emirates.
Val ZvereffM42, Abu Dhabi, United Arab Emirates.
Albarah El-KhaniM42, Abu Dhabi, United Arab Emirates.
Fahed Al MarzooqiM42, Abu Dhabi, United Arab Emirates.
Tiago R MagalhãesM42, Abu Dhabi, United Arab Emirates.
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
Javier QuilezM42, Abu Dhabi, United Arab Emirates; jquilez@m42.ae.ORCID 0000-0002-0108-2672

Funding

Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
NHGRI NIH HHS U01 HG011758
6 · The paper itself

Abstract

Long-read sequencing (LRS) technologies, namely, Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio), have emerged as promising solutions to overcome the limitations of short-read sequencing (SRS). Nevertheless, the still higher sequencing error rates compared with SRS, need for customized pipelines, rapidly updating software, and incipient scalability continue to present challenges for adopting ONT in standard clinical practice. Here we assess the performance of ONT (R9 and R10 chemistries) in comparison to Illumina and MGI across 17 well-characterized reference samples with 11 clinical variants representing nine different genetic diseases. To enable this, we have implemented a production-ready pipeline including SNV, indel, STR, SV, and CNV detection, alongside reporting key summary metrics to ensure high-quality data at the production sequencing level. Our results show high accuracy of ONT across SNVs (

Indexed as

GenomicsHigh-Throughput Nucleotide SequencingNanopore SequencingSequence Analysis, DNADNA Copy Number VariationsGenome, HumanHumansINDEL MutationPolymorphism, Single Nucleotide

Identifiers

PMID41672886
PMCPMC12951962

What OpenQuestion holds

Textmetadata
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.