Evidence map›Paper›PMID 34634029›Full record

ArticlePLoS computational biology2021

Improved prediction of smoking status via isoform-aware RNA-seq deep learning models.

Zifeng Wang, Aria Masoomi, Zhonghui Xu, Adel Boueiz, Sool Lee, Tingting Zhao, Russell Bowler, Michael Cho, Edwin K Silverman, Craig Hersh and 2 more

Open access · goldAbstract read
In one paragraph

Article in PLoS computational biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 30% of its field
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

6 citing papers in PubMed, 10 citations in OpenAlex.

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  5. Explanations of Black-Box Models based on Directional Feature Interactions.... International Conference on Learning Representations · 2022
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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

12 authors at 3 institutions in 1 country.

Zifeng WangDepartment of ECE, Northeastern University, Boston, Massachusetts, United States.ORCID 0000-0002-0068-9042
Aria MasoomiDepartment of ECE, Northeastern University, Boston, Massachusetts, United States.
Zhonghui XuChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0002-6469-9178
Adel BoueizChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0003-1638-8575
Sool LeeChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0002-6730-0062
Tingting ZhaoDepartment of ECE, Northeastern University, Boston, Massachusetts, United States.ORCID 0000-0001-6418-699X
Russell BowlerDivision of Pulmonary and Critical Care Medicine, National Jewish Health, Denver, Colorado, United States.ORCID 0000-0003-4651-363X
Michael ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0002-4907-1657
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0002-3641-3822
Craig HershChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.ORCID 0000-0002-1342-4334
Jennifer DyDepartment of ECE, Northeastern University, Boston, Massachusetts, United States.ORCID 0000-0002-8430-134X
Peter J CastaldiChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States.
Brigham and Women's Hospital · USNortheastern University · USNational Jewish Health · US

Funding

Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
Genetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M
Using Integrative Genomics To Identify and Characterize Emphysema-Associated eQTLR01HL124233 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASTALDI, PETER · 2014 to 2024
$7.1M
Prospective Health Outcomes and Inflammatory Biomarkers Associated with e-Cigarette UseR01HL147326 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASTALDI, PETER · 2019 to 2021
$1.5M
Clinical significance and genetic determinants of novel imaging measures of emphysema distribution in 9,743 smokersK08HL141601 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI EL BOUEIZ, ADEL · 2018 to 2022
$853k
NHLBI NIH HHS K08 HL141601NHLBI NIH HHS R01 HL124233NHLBI NIH HHS R01 HL147326NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897
6 · The paper itself

Abstract

Most predictive models based on gene expression data do not leverage information related to gene splicing, despite the fact that splicing is a fundamental feature of eukaryotic gene expression. Cigarette smoking is an important environmental risk factor for many diseases, and it has profound effects on gene expression. Using smoking status as a prediction target, we developed deep neural network predictive models using gene, exon, and isoform level quantifications from RNA sequencing data in 2,557 subjects in the COPDGene Study. We observed that models using exon and isoform quantifications clearly outperformed gene-level models when using data from 5 genes from a previously published prediction model. Whereas the test set performance of the previously published model was 0.82 in the original publication, our exon-based models including an exon-to-isoform mapping layer achieved a test set AUC (area under the receiver operating characteristic) of 0.88, which improved to an AUC of 0.94 using exon quantifications from a larger set of genes. Isoform variability is an important source of latent information in RNA-seq data that can be used to improve clinical prediction models.

Indexed as

Deep LearningModels, StatisticalSmokingAgedComputational BiologyExonsFemaleGene Expression ProfilingHumansMaleMiddle AgedProtein IsoformsRNA-SeqROC CurveProtein Isoforms

Identifiers

PMID34634029
PMCPMC8530282
OpenAlexW3205978733

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.