Evidence map›Paper›PMID 33927746›Full record

ArticleFrontiers in genetics2021

Deep Learning Enables Fast and Accurate Imputation of Gene Expression.

Ramon Viñas, Tiago Azevedo, Eric R Gamazon, Pietro Liò

Abstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

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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

4 authors.

Ramon ViñasDepartment of Computer Science and Technology, University of Cambridge, Cambridge, United Kingdom.
Tiago AzevedoDepartment of Computer Science and Technology, University of Cambridge, Cambridge, United Kingdom.
Eric R GamazonVanderbilt Genetics Institute and Data Science Institute, VUMC, Nashville, TN, United States.
Pietro LiòDepartment of Computer Science and Technology, University of Cambridge, Cambridge, United Kingdom.

Funding

Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populationsR01GM140287 · NIGMS · SEATTLE CHILDREN'S HOSPITAL · PI GAMAZON, ERIC R, MOHAMMADI, PEJMAN · 2021 to 2024
$2.8M
Functional Genomics: A Phenome-wide SurveyR35HG010718 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2019 to 2023
$2.2M
Mechanisms of necrosis regulation of hematopoietic stem cell functionR01HL133559 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZINKEL, SANDRA S · 2018 to 2021
$1.6M
Advancing Multi-Omics and Electronic Health Records Computational MethodologiesR01HG011138 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2020 to 2024
$1.6M
Medical Research Council MC_PC_17213NHGRI NIH HHS R01 HG011138NHGRI NIH HHS R35 HG010718NHLBI NIH HHS R01 HL133559NIGMS NIH HHS R01 GM140287
6 · The paper itself

Abstract

A question of fundamental biological significance is to what extent the expression of a subset of genes can be used to recover the full transcriptome, with important implications for biological discovery and clinical application. To address this challenge, we propose two novel deep learning methods, PMI and GAIN-GTEx, for gene expression imputation. In order to increase the applicability of our approach, we leverage data from GTEx v8, a reference resource that has generated a comprehensive collection of transcriptomes from a diverse set of human tissues. We show that our approaches compare favorably to several standard and state-of-the-art imputation methods in terms of predictive performance and runtime in two case studies and two imputation scenarios. In comparison conducted on the protein-coding genes, PMI attains the highest performance in inductive imputation whereas GAIN-GTEx outperforms the other methods in in-place imputation. Furthermore, our results indicate strong generalization on RNA-Seq data from 3 cancer types across varying levels of missingness. Our work can facilitate a cost-effective integration of large-scale RNA biorepositories into genomic studies of disease, with high applicability across diverse tissue types.

Indexed as

deep learninggene expressiongenerative adversarial networksGTEximputationmachine learningRNA-seqtranscriptomics

Identifiers

PMID33927746
PMCPMC8076954

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Registered trials

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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.