Evidence map›Paper›PMID 41332538›Full record

ArticlebioRxiv : the preprint server for biology2025

Efficient near telomere-to-telomere assembly of Nanopore Simplex reads.

Haoyu Cheng, Han Qu, Sean McKenzie, Katherine R Lawrence, Rhydian Windsor, Mike Vella, Peter J Park, Heng Li

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

5 · Who and what money

Authors and funding

8 authors.

Haoyu ChengDepartment of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-9209-5793
Han QuDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Sean McKenzieOxford Nanopore Technologies, Oxford, United Kingdom.
Katherine R LawrenceOxford Nanopore Technologies, Oxford, United Kingdom.
Rhydian WindsorOxford Nanopore Technologies, Oxford, United Kingdom.
Mike VellaOxford Nanopore Technologies, Oxford, United Kingdom.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-9378-960X
Heng LiDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.

Funding

The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9M
ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
Genetic & Social Determinants of Health: Center for Admixture Science and TechnologyRM1HG011558 · NHGRI · YALE UNIVERSITY · PI FRAZER, KELLY A, GYMREK, MELISSA · 2021 to 2025
$11.2M
Data Analysis Center for Somatic Mosaicism Across Human Tissues NetworkUM1DA058230 · NIDA · HARVARD MEDICAL SCHOOL · PI Peter J Park · 2023 to 2026
$6.3M
Advanced computational methods in analyzing high-throughput sequencing dataR01HG010040 · NHGRI · DANA-FARBER CANCER INST · PI Heng Li · 2018 to 2026
$3.7M
Mutational signature analysis: methods and applications to the clinicR01CA269805 · NCI · HARVARD MEDICAL SCHOOL · PI Peter J Park · 2022 to 2026
$2.2M
Robust and cost-effective computational methods for haplotype-resolved genome assembliesR00HG012798 · NHGRI · YALE UNIVERSITY · PI Haoyu Cheng · 2024 to 2026
$747k
NCI NIH HHS R01 CA269805NHGRI NIH HHS R00 HG012798NHGRI NIH HHS R01 HG010040NHGRI NIH HHS RM1 HG011558NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U41 HG010972NIDA NIH HHS UM1 DA058230
6 · The paper itself

Abstract

Telomere-to-telomere (T2T) assembly is the ultimate goal for de novo genome assembly. Existing algorithms capable of near T2T assembly all require Oxford Nanopore Technologies (ONT) ultra-long reads which are costly and experimentally challenging to obtain and are thus often unavailable for samples without established cell lines. Here, we introduce hifiasm (ONT), the first algorithm that can produce near T2T assemblies from standard ONT Simplex reads, eliminating the need for ultra-long sequencing. Compared to existing methods, hifiasm (ONT) reduces the computational demands by an order of magnitude and reconstructs more chromosomes from telomere to telomere on the same datasets. This advancement substantially broadens the feasibility of T2T assembly for applications previously limited by the high cost and experimental requirement of ultra-long reads.

Identifiers

PMID41332538
PMCPMC12667832

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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.