Evidence map›Paper›PMID 32761097›Full record

ArticleGigaScience2020

Genomic data imputation with variational auto-encoders.

Yeping Lina Qiu, Hong Zheng, Olivier Gevaert

Abstract read
In one paragraph

Article in GigaScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
–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

34 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  15. AUGMENTED DOUBLY ROBUST POST-IMPUTATION INFERENCE FOR PROTEOMIC DATA.bioRxiv : the preprint server for biology · 2025
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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

3 authors.

Yeping Lina QiuStanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA 94305, USA.
Hong ZhengStanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA 94305, USA.
Olivier GevaertStanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA 94305, USA.

Funding

Organoid-based Discovery of Oncogenic Drivers and Treatment Resistance MechanismsU01CA217851 · NCI · STANFORD UNIVERSITY · PI CURTIS, CHRISTINA N, JI, HANLEE P · 2017 to 2021
$4.7M
Modeling KRAS-Dependent Synthetic Lethality in Human Colon OrganoidsU01CA199241 · NCI · STANFORD UNIVERSITY · PI KUO, CALVIN J, SHOKAT, KEVAN M. · 2016 to 2019
$4.3M
Radiogenomics Framework for Non-Invasive Personalized MedicineR01EB020527 · NIBIB · STANFORD UNIVERSITY · PI GEVAERT, OLIVIER · 2015 to 2018
$2.3M
Radiogenomics framework for non-invasive personalized medicineR56EB020527 · NIBIB · STANFORD UNIVERSITY · PI GEVAERT, OLIVIER · 2019 to 2019
$444k
NCI NIH HHS U01 CA199241NCI NIH HHS U01 CA217851NIBIB NIH HHS R01 EB020527NIBIB NIH HHS R56 EB020527
6 · The paper itself

Abstract

backgroundAs missing values are frequently present in genomic data, practical methods to handle missing data are necessary for downstream analyses that require complete data sets. State-of-the-art imputation techniques, including methods based on singular value decomposition and K-nearest neighbors, can be computationally expensive for large data sets and it is difficult to modify these algorithms to handle certain cases not missing at random.

resultsIn this work, we use a deep-learning framework based on the variational auto-encoder (VAE) for genomic missing value imputation and demonstrate its effectiveness in transcriptome and methylome data analysis. We show that in the vast majority of our testing scenarios, VAE achieves similar or better performances than the most widely used imputation standards, while having a computational advantage at evaluation time. When dealing with data missing not at random (e.g., few values are missing), we develop simple yet effective methodologies to leverage the prior knowledge about missing data. Furthermore, we investigate the effect of varying latent space regularization strength in VAE on the imputation performances and, in this context, show why VAE has a better imputation capacity compared to a regular deterministic auto-encoder.

conclusionsWe describe a deep learning imputation framework for transcriptome and methylome data using a VAE and show that it can be a preferable alternative to traditional methods for data imputation, especially in the setting of large-scale data and certain missing-not-at-random scenarios.

Indexed as

AlgorithmsGenomicsCluster Analysisdeep learningimputationvariational auto-encoder

Identifiers

PMID32761097
PMCPMC7407276

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.