Evidence map›Paper›PMID 40461779›Full record

ArticleNature biotechnology2026

Improving gene isoform quantification with miniQuant.

Haoran Li, Dingjie Wang, Qi Gao, Puwen Tan, Yunhao Wang, Xiaoyu Cai, Aifu Li, Yue Zhao, Andrew L Thurman, Seyed Amir Malekpour and 8 more

Abstract read
In one paragraph

Article in Nature biotechnology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Long-Read Sequencing Reveals RNA Splicing Complexity in Human Diseases.Computational and structural biotechnology journal · 2026
    Review
  7. Article
  8. Cell-type-resolvedbioRxiv : the preprint server for biology · 2025
    Article
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

18 authors.

Haoran Li *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0009-0009-2470-9448
Dingjie Wang *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Qi Gao *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-7245-3971
Puwen Tan *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Yunhao Wang *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-6949-290X
Xiaoyu Cai *Gilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0009-0008-8675-5637
Aifu LiGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Yue ZhaoDepartment of Internal Medicine, University of Iowa, Iowa City, IA, USA.ORCID http://orcid.org/0000-0001-6029-7123
Andrew L ThurmanDepartment of Internal Medicine, University of Iowa, Iowa City, IA, USA.
Seyed Amir MalekpourDepartment of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.ORCID http://orcid.org/0000-0002-3525-3548
Ying ZhangDepartment of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.
Roberta SalaDepartment of Obstetrics and Gynecology, Stanford University, Stanford, CA, USA.
Andrea CiprianoDepartment of Obstetrics and Gynecology, Stanford University, Stanford, CA, USA.
Chia-Lin WeiThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0001-6820-0461
Vittorio SebastianoDepartment of Obstetrics and Gynecology, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-8498-8655
Chi SongDivision of Biostatistics, College of Public Health, The Ohio State University, Columbus, OH, USA.
Nancy R ZhangDepartment of Statistics and Data Science, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-0880-5749
Kin Fai AuGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. kinfai@umich.edu.ORCID http://orcid.org/0000-0002-9222-4241

Funding

Strategic Vision & Impact on Environmental HealthP30ES017885 · NIEHS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Dana Dolinoy · 2011 to 2026
$21.3M
Multidisciplinary Lung Research Career Development ProgramT32HL007638 · NHLBI · UNIVERSITY OF IOWA · PI WELSH, MICHAEL J., ZABNER, JOSEPH · 1986 to 2020
$16.9M
Statistical Models for Genome Sequencing and AssociationR01HG006137 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI JI, HANLEE P, ZHANG, NANCY R · 2011 to 2022
$4.3M
Quantitative and function analysis platform for repetitive genes and gene isoforms in pluripotency regulation and differentiationsR01HG011469 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI AU, KIN FAI · 2021 to 2024
$2.6M
Bioinformatics platform for Hybrid-Seq transcriptome data analysisR01HG008759 · NHGRI · UNIVERSITY OF IOWA · PI AU, KIN FAI · 2016 to 2020
$1.9M
Multiomic methods for the characterization of cellular agingR56AG081351 · NIA · UNIVERSITY OF PENNSYLVANIA · PI JOHNSON, F. BRAD, ZHANG, NANCY R · 2024 to 2024
$400k
NHGRI NIH HHS R01 HG006137NHGRI NIH HHS R01 HG008759NHGRI NIH HHS R01 HG011469NHLBI NIH HHS T32 HL007638NIA NIH HHS R56 AG081351NIEHS NIH HHS P30 ES017885U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) T32HL007638U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG006137U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG008759U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG011469U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R56AG081351
6 · The paper itself

Abstract

RNA sequencing has been widely applied for gene isoform quantification, but limitations exist in quantifying isoforms of complex genes accurately, especially for short reads. Here we identify genes that are difficult to quantify accurately with short reads and illustrate the information benefit of using long reads to quantify these regions. We present miniQuant, which ranks genes with quantification errors caused by the ambiguity of read alignments and integrates the complementary strengths of long reads and short reads with optimal combination in a gene- and data-specific manner to achieve more accurate quantification. These results are supported by rigorous mathematical proofs, validated with a wide range of simulation data, experimental validations and more than 17,000 public datasets from GTEx, TCGA and ENCODE consortia. We demonstrate miniQuant can uncover isoform switches during the differentiation of human embryonic stem cells to pharyngeal endoderm and primordial germ cell-like cells.

Indexed as

Sequence Analysis, RNASoftwareCell DifferentiationHuman Embryonic Stem CellsHumansProtein IsoformsProtein Isoforms

Identifiers

PMID40461779
PMCPMC12346831

What OpenQuestion holds

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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.