Evidence map›Paper›PMID 40694478›Full record

ArticleBioinformatics (Oxford, England)2025

Evaluation of sequencing reads at scale using rdeval.

Giulio Formenti, Bonhwang Koo, Marco Sollitto, Jennifer Balacco, Nadolina Brajuka, Richard Burhans, Erick Duarte, Alice M Giani, Kirsty McCaffrey, Jack A Medico and 4 more

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. The complete genome of a songbird.bioRxiv : the preprint server for biology · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Giulio FormentiThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.ORCID 0000-0002-7554-5991
Bonhwang KooThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Marco SollittoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Jennifer BalaccoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Nadolina BrajukaThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Richard BurhansDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, 505 Wartik Laboratory, University Park, PA 16801, United States.
Erick DuarteThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Alice M GianiFeil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY 10021, United States.
Kirsty McCaffreyThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Jack A MedicoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.
Eugene W MyersThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.ORCID 0000-0002-6580-7839
Patrik SmedsDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, 505 Wartik Laboratory, University Park, PA 16801, United States.
Anton NekrutenkoDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, 505 Wartik Laboratory, University Park, PA 16801, United States.ORCID 0000-0002-5987-8032
Erich D JarvisThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, New York City, NY 10065, United States.

Funding

Center for Human Genome Reference DiversityUM1HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Robert Mullan Cook-Deegan, Evan Eichler · 2024 to 2026
$8.6M
Gfastar: a C++ library and a tool suite to aid Telomere-to-Telomere genome assemblyR03HG013362 · NHGRI · ROCKEFELLER UNIVERSITY · PI FORMENTI, GIULIO · 2024 to 2024
$170k
National Human Genome Research Institute of the National Institutes of Health R03HG013362NHGRI NIH HHS R03 HG013362NHGRI NIH HHS UM1 HG010971
6 · The paper itself

Abstract

motivationLarge sequencing datasets are being produced and deposited into public archives at unprecedented rates. The availability of tools that can reliably and efficiently generate and store sequencing read summary statistics has become critical.

resultsAs part of the effort by the Vertebrate Genomes Project (VGP) to generate high-quality reference genomes at scale, we sought to address the community's need for efficient sequence data evaluation by developing rdeval, a standalone tool to quickly compute and interactively display sequencing read metrics. Rdeval can either run on the fly or store key sequence data metrics in tiny read 'snapshot' files. Statistics can then be efficiently recalled from snapshots for additional processing. Rdeval can convert fa*[.gz] files to and from other popular formats including BAM and CRAM for better compression. Overall, while CRAM achieves the best compression, the gain compared to BAM is marginal, and BAM achieves the best compromise between data compression and access speed. Rdeval also generates a detailed visual report with multiple data analytics that can be exported in various formats. We showcase rdeval's functionalities using long-read data from different sequencing platforms and species, including human. For PacBio long-read sequencing, our analysis shows dramatic improvements in both read length and quality over time, as well as the benefit of increased coverage for genome assembly, though the magnitude varies by taxa. AVAILABILITY AND IMPLEMENTATION: Rdeval is implemented in C++ for data processing and in R for data visualization. Precompiled releases (Linux, MacOS, Windows) and commented source code for rdeval are available under MIT license at https://github.com/vgl-hub/rdeval. Documentation is available on ReadTheDocs (https://rdeval-documentation.readthedocs.io). Rdeval is also available in Bioconda and in Galaxy (https://usegalaxy.org). An automated test workflow ensures the consistency of software updates.

Indexed as

High-Throughput Nucleotide SequencingSequence Analysis, DNASoftwareAnimalsGenomicsHumans

Identifiers

PMID40694478
PMCPMC12401588

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.