Evidence map›Paper›PMID 39975369›Full record

ArticlebioRxiv : the preprint server for biology2025

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 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

14 authors.

Giulio FormentiThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.ORCID 0000-0002-7554-5991
Bonhwang KooThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Marco SollittoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Jennifer BalaccoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Nadolina BrajukaThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Richard BurhansPenn State University, 507 Wartik Laboratory, State College, PA 16801, USA.
Erick DuarteThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Alice M GianiFeil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY 10021, USA.ORCID 0000-0001-8805-7826
Kirsty McCaffreyThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Jack A MedicoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.ORCID 0000-0003-1855-0855
Eugene W MyersThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.
Patrik SmedsPenn State University, 507 Wartik Laboratory, State College, PA 16801, USA.
Anton NekrutenkoPenn State University, 507 Wartik Laboratory, State College, PA 16801, USA.
Erich D JarvisThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Avenue, New York, USA.

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
NHGRI NIH HHS R03 HG013362NHGRI NIH HHS UM1 HG010971
6 · The paper itself

Abstract

Motivation: Large sequencing data sets are 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. Results: As part of the effort by the Vertebrate Genomes Project (VGP) to generate high-quality reference genomes at scale, we sought to address the community need for efficient sequencing data evaluation by developing rdeval, a standalone tool to quickly compute and dynamically display sequencing read metrics. Rdeval can either run on the fly or store key sequence data metrics in read 'sketches', with dramatic compression gains. Statistics can then be efficiently recalled from sketches 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 is marginal, and BAM achieves the best compromise between data compression and accessing 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 human and VGP read data from different sequencing platforms and species. For PacBio long-read sequencing, our analysis shows dramatic improvements both in read length and quality over time, and a benefit of additional coverage for genome assembly. Availability and implementation: Rdeval is implemented in C++ for data processivity 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 using 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. Supplementary information: Supplementary data are available at Bioinformatics online.

Indexed as

AlgorithmsBAMCRAMGenome analysisGenomicslong-readreadSequence analysissequencingSequencingShort-readSoftware

Identifiers

PMID39975369
PMCPMC11838479

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.