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Table 1 Overview of research works on correlating pathomics with genomics

From: Pathogenomics for accurate diagnosis, treatment, prognosis of oncology: a cutting edge overview

Tumor type

Models

References

Data modalities

Performance

HGSOC

ResNet-18, Cox

Kevin et al. [41]

WSI, CT, CE-CT, and NGS

Survival prediction, C-index: 0.61

BRCA and LUAD

Inception v3

Alona et al. [42]

WSI, RNA, and miRNA,

miR-17 status prediction, AUC: 0.95

Pan-cancer

Shufflenet, densenet, inception, and resnet

Jakob et al. [14]

WSI and CNV

MSI status prediction, AUC: 0.89

LUAD

ResNet18, GO, and KEGG

Yi et al. [53]

WSI, mRNA, and clinical characteristics

TMB status prediction, AUC: 0.64

Pan-cancer

HE2RNA

Benoît et al. [39]

WSI and RNA-Seq

The model could predict RNA-Seq profiles from WSIs

STAD

ResNet18, AlexNet, vgg19, squeezenet

Jakob et al. [38]

WSI, MSI and clinical information

Shown that deep residual learning can predict MSI directly from H&E histology

LUAD and LUSC

Inception v3

Nicolas et al. [33]

WSI and gene mutation data

3-Class classification performance reached AUC: 0.97; gene mutations AUCs from 0.733 to 0.856

Pan-cancer

Deep transfer learning, inception V4, COX

Yu et al. [13]

WSI, genomics, transcriptomics and survival data

Shown that deep learning could characterize the molecular bias of tumor pathology

COAD and READ

GCN

Ding et al. [54]

WSI and gene mutation data

Shown that GCN models could predict molecular profile from WSIs

KIRC

LR, RF, SVM, Adaboost

Zheng et al. [55]

WSI and DNA methylation

Shown that ML algorithms can associate the DNA methylation with histological features

  1. DL deep learning, HGSOC high-grade serous ovarian cancer, CT computed tomography, CE-CT contrast-enhanced computed tomography, BRCA breast cancer, LUAD lung adenocarcinoma, STAD stomach cancer, LUSC lung squamous cell carcinoma, CRC colorectal cancer, KIRC kidney clear cell carcinoma, TNBC triple-negative breast cancer, CNN convolutional neural network, WSI whole slide image, KEGG Kyoto Encyclopedia of Genes and Genomes, GO Gene Ontology, C-index concordance index, NGS next generation sequencing, RF random forest, MSI microsatellite, AUC area under curves, mRNA messenger-RNA, miRNA micro-RNA, CAMS the Chinese Academy of Medical Sciences, China, NLST the National Lung Screening Trial, SPORE the University of Texas Special Program of Research Excellence, LR logistic regression, SVM support vector machines, RF ransom forest, TCGA The Cancer Genome Atlas, COAD colon adenocarcinoma, READ rectum adenocarcinoma, GCN graph convolutional network, KIRC kidney renal clear cell carcinoma, ML machine learning