Evidence map›Paper›PMID 32974946›Full record

ArticleStatistics in medicine2020

Genome-wide association study-based deep learning for survival prediction.

Tao Sun, Yue Wei, Wei Chen, Ying Ding

Abstract read
In one paragraph

Article in Statistics in medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

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  11. Artificial intelligence for dementia genetics and omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
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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.

Tao SunDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Yue WeiDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Wei ChenDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Ying DingDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0003-1352-1000

Funding

University of Pittsburgh Clinical and Translational Science InstituteUL1TR001857 · NCATS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E · 2016 to 2025
$129.3M
Deep-learning-based prediction of AMD and its progression with GWAS and fundus image dataR21EY030488 · NEI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHEN, WEI, DING, YING · 2020 to 2021
$408k
NCATS NIH HHS UL1 TR001857NEI NIH HHS R21 EY030488
6 · The paper itself

Abstract

Informative and accurate survival prediction with individualized dynamic risk profiles over time is critical for personalized disease prevention and clinical management. The massive genetic data, such as SNPs from genome-wide association studies (GWAS), together with well-characterized time-to-event phenotypes provide unprecedented opportunities for developing effective survival prediction models. Recent advances in deep learning have made extraordinary achievements in establishing powerful prediction models in the biomedical field. However, the applications of deep learning approaches in survival prediction are limited, especially with utilizing the wealthy GWAS data. Motivated by developing powerful prediction models for the progression of an eye disease, age-related macular degeneration (AMD), we develop and implement a multilayer deep neural network (DNN) survival model to effectively extract features and make accurate and interpretable predictions. Various simulation studies are performed to compare the prediction performance of the DNN survival model with several other machine learning-based survival models. Finally, using the GWAS data from two large-scale randomized clinical trials in AMD with over 7800 observations, we show that the DNN survival model not only outperforms several existing survival prediction models in terms of prediction accuracy (eg, c-index =0.76), but also successfully detects clinically meaningful risk subgroups by effectively learning the complex structures among genetic variants. Moreover, we obtain a subject-specific importance measure for each predictor from the DNN survival model, which provides valuable insights into the personalized early prevention and clinical management for this disease.

Indexed as

Deep LearningGenome-Wide Association StudyMachine LearningNeural Networks, ComputerPolymorphism, Single NucleotideAMD progressiondeep learningGWASpredictor importancesurvival prediction

Identifiers

PMID32974946
PMCPMC8056253

What OpenQuestion holds

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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.