Improving the Usability of Donor Data from Registries Using an Extreme Learning Machine Approach to Upgrade Low-/Mid- to High-Resolution HLA Data

Background/Objectives: High-resolution Human Leukocyte Antigen (HLA) typing is required for unrelated donor selection, yet many registry records remain low- or intermediate-resolution. Haplotype frequency imputation is the standard remedy, but its accuracy decreases for rare haplotypes. Methods: A locus-specific Extreme Learning Machine (ELM) framework, trained on the Greek national donor registry (n = 117,345), upgrades low-/intermediate-resolution genotypes and imputes untyped loci; output weights are solved analytically. It was validated on two independent Greek cohorts (n = 20,100; 4353) against GRIMM and two expectation maximization baselines, on the same donors. Results: Accuracy depended on the high-resolution context available (94% for HLA-A with four anchor loci; 19–22% with none) and on the posterior probability threshold (78–91% ORAM, 70–84% GRPT), while call rate fell from 98.1% to ~41%; the two cannot be maximized together. GRIMM called fewer donors (1.8–47.9%) at comparable or higher accuracy. Allele-vocabulary abridgment excluded 14–47% of external-cohort allele calls; stratified by vocabulary membership, ORAM accuracy was 94.2% for in-vocabulary donors and 73.7% for the rest. The training procedure has no convergence guarantee. Conclusions: ELM upgrading converts legacy registry data into probabilistic high-resolution calls, with registry-scale training completing in minutes. These calls can narrow donor searches but cannot substitute for confirmatory typing.

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Publication Details

Journal
Genes
Published
2026-10-08
DOI
https://doi.org/10.3390/genes17101239
Primary Topic
Hematopoietic Stem Cell Transplantation
Type
article
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article

Improving the Usability of Donor Data from Registries Using an Extreme Learning Machine Approach to Upgrade Low-/Mid- to High-Resolution HLA Data

Stavros Kepentzis, Dimitris Koutsouris, Ουρανία Πετροπούλου, Theofanis K. Chatzistamatiou et al.
Genes
Hematopoietic Stem Cell Transplantation
article

Improving the Usability of Donor Data from Registries Using an Extreme Learning Machine Approach to Upgrade Low-/Mid- to High-Resolution HLA Data

Stavros Kepentzis, Dimitris Koutsouris, Ουρανία Πετροπούλου, Theofanis K. Chatzistamatiou, George K. Matsopoulos, Jason Digalakis
article en

Abstract

Background/Objectives: High-resolution Human Leukocyte Antigen (HLA) typing is required for unrelated donor selection, yet many registry records remain low- or intermediate-resolution. Haplotype frequency imputation is the standard remedy, but its accuracy decreases for rare haplotypes. Methods: A locus-specific Extreme Learning Machine (ELM) framework, trained on the Greek national donor registry (n = 117,345), upgrades low-/intermediate-resolution genotypes and imputes untyped loci; output weights are solved analytically. It was validated on two independent Greek cohorts (n = 20,100; 4353) against GRIMM and two expectation maximization baselines, on the same donors. Results: Accuracy depended on the high-resolution context available (94% for HLA-A with four anchor loci; 19–22% with none) and on the posterior probability threshold (78–91% ORAM, 70–84% GRPT), while call rate fell from 98.1% to ~41%; the two cannot be maximized together. GRIMM called fewer donors (1.8–47.9%) at comparable or higher accuracy. Allele-vocabulary abridgment excluded 14–47% of external-cohort allele calls; stratified by vocabulary membership, ORAM accuracy was 94.2% for in-vocabulary donors and 73.7% for the rest. The training procedure has no convergence guarantee. Conclusions: ELM upgrading converts legacy registry data into probabilistic high-resolution calls, with registry-scale training completing in minutes. These calls can narrow donor searches but cannot substitute for confirmatory typing.

GenesVol. 17(10)
National Technical University of Athens (GR), Sismanoglio General Hospital (GR)
Openalex Percentile: Top 12%
Hematopoietic Stem Cell Transplantation
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Improving the Usability of Donor Data from Registries Using an Extreme Learning Machine Approach to Upgrade Low-/Mid- to High-Resolution HLA Data — Stavros Kepentzis, Dimitris Koutsouris, et al. · Genes (2026) | TGRS Research Map | TGRS