Table 5 Diagnostic and predictive models built using genetic variables.

From: Clinical use of artificial intelligence in endometriosis: a scoping review

AI methods used

Authors [ref.]

Stage of endometriosis

Type of endometriosis

Sample size

Inputs used

Method accuracy

Deep Machine Learning Algorithm

Li et al.52

All four stages of endometriosisa

Not specified

213 patients (142 endometriosis, 71 controls)

SCAF11, KIF3A, KRAS, MDM2

SE = 100%

SP = 61.1%

GenomeForest

Akter et al.53

All four stages of endometriosisa

Not specified

Transcriptomics dataset: 16 endometriosis, 22 controls; methylomics dataset: 44 endometriosis, 36 controls

Genes in transcriptomics data and genomic regions in methylated data. 11 687 protein-coding genes (14 154 genes total)

For transcriptomics data:

SE = 93.8%

SP = 100%

For methylomics data:

SE = 92.9%

SP = 88.6%

Random-Forest-based Machine Learning Classification Analysis

Perrotta et al.54

All four stages of endometriosisa

Not specified

59 patients (35 endometriosis, 24 controls)

Operational taxonomic unit and community state types in vaginal microbiome

SE = NR

SP = NR

Decision Tree

Akter et al.55

All four stages of endometriosisa

Not specified

Transcriptomics dataset: 38 samples (16 endometriosis, 22 controls); methylomics dataset: 77 samples (42 endometriosis, 35 controls)

Transcriptomics: 14 154 genes; methylomics: 2 577 382 methylated regions

For transcriptomics:

SE = 81.3%

SP = 95.5%

For methylomics:

SE = 76.2%

SP = 80%

Partial Least Squares Discrimination Analysis

Akter et al.55

All four stages of endometriosisa

Not specified

Transcriptomics dataset: 38 samples (16 endometriosis, 22 controls); methylomics dataset: 77 samples (42 endometriosis, 35 controls)

Transcriptomics: 14 154 genes; methylomics: 2 577 382 methylated regions

For transcriptomics:

SE = 86.4%

SP = 56.3%

For methylomics:

SE = 60%

SP = 76.2%

Support Vector Machines

Akter et al.55

All four stages of endometriosisa

Not specified

Transcriptomics dataset: 38 samples (16 endometriosis, 22 controls); methylomics dataset: 77 samples (42 endometriosis, 35 controls)

Transcriptomics: 14 154 genes; methylomics: 2 577 382 methylated regions

For transcriptomics:

SE = 63.6%

SP = 43.8%

For methylomics:

SE = 40%

SP = 61.9%

Random Forest

Akter et al.55

All four stages of endometriosisa

Not specified

Transcriptomics dataset: 38 samples (16 endometriosis, 22 controls); methylomics dataset: 77 samples (42 endometriosis, 35 controls)

Transcriptomics: 14 154 genes; methylomics: 2 577 382 methylated regions

For transcriptomics:

SE = 45.5%

SP = 43.8%

For methylomics:

SE = 31.4%

SP = 52.4%

Margin Tree Classification

Tamaresis et al.56

All four stages of endometriosisa

Not specified

148 endometrial samples (77 endometriosis, 37 without endometriosis but other uterine/pelvic pathology, 34 controls)

FOSB, FOS, EGR1, JUNB, MTSS1L, CTSW, TGFB1, SOC3, IL32, FKBP8, ISYNA1, CCL3, GNLY, MAP3K11, C1QA, NOTCH3, CYR61, NPTXR, FBN1, PNRC2, ITGA6, DHFR, SLC39A6, MYO10, HSP90B1, SMC3, PKP4, PALLD, DIO2

SE = NR

SP = NR

  1. NR not reported, SCAF11 SR-related CTD-associated factor 11, KIF3A kinesin family member 3A, KRAS Kirsten rat sarcoma viral oncogene homolog, MDM2 mouse double minute 2 homolog, FOSB Fbj murine osteosarcoma oncogene B, EGR1 early growth response 1, JUNB JunB proto-oncogene, MTSS1L metastasis suppressor 1-like, CTSW cathepsin W, TGFB1 transforming growth factor beta 1, SOC3 suppressor of cytokine signaling 3, IL32 interleukin 32, FKBP8 FKBP prolyl isomerase 8, ISYNA1 inositol-3-phosphate synthase 1, CCL3 chemokine ligand 3, GNLY granulysin, MAP3K11 mitogen-activated protein kinase kinase kinase 11, C1QA complement C1q A chain, NOTCH3 notch receptor 3, CYR61 cysteine-rich angiogenic inducer 61, NPTXR neuronal pentraxin receptor, FBN1 fibrillin 1, PNRC2 protein rich nuclear receptor coactivator 2, ITGA6 integrin subunit alpha 6, DHFR dihydrofolate reductase, SLC39A6 Dolutegravir carrier family 39 member 6, MYO10 myosin X, HSP90B1 heat shock protein 90 beta family member 1, SMC3 structural maintenance of chromosomes 3, PKP4 plakophillin 4, PALLD Palladin, cytoskeletal associated protein, DIO2 iodothyronine deiodinase 2, SE sensitivity, SP specificity.
  2. aMinimal, mild, moderate and severe stages of endometriosis were included.
Back to article page