Evidence map›Paper›PMID 42151105›Full record

ArticleInternational journal of laboratory hematology2026

Artificial Intelligence Based High Resolution Melting Analysis for Comprehensive Calreticulin Mutation Screening and Novel Variant Detection in Myeloproliferative Neoplasms.

Qingyun Zhang, Xiaotong Ma, Quanli Wu, Yusi Duan, Can Yang, Xuemei Tang, Chun Xu, Ming Guan, Zhiyuan Wu

Abstract read
In one paragraph

Article in International journal of laboratory hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Qingyun ZhangCentral Laboratory, Huashan Hospital, Fudan University, Shanghai, China.
Xiaotong MaDepartment of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Quanli WuDepartment of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Yusi DuanDepartment of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Can YangDepartment of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Xuemei TangCentral Laboratory, Huashan Hospital, Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0003-0957-6420
Chun XuCellSee (Wuxi) Intelligent Technology Co. Ltd, Wuxi, China.
Ming GuanCentral Laboratory, Huashan Hospital, Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0002-8796-2653
Zhiyuan WuDepartment of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.ORCID https://orcid.org/0009-0008-3554-2412

Funding

Huashan Hospital, Fudan University 30302164004National Natural Science Foundation of China 82272415National Natural Science Foundation of China 82472369Shanghai Municipal Health Commission 2022YQ045
6 · The paper itself

Abstract

introductionCurrent CALR mutation screening in myeloproliferative neoplasms (MPNs) faces a trade-off between coverage and cost: allele-specific qPCR and fragment analysis are inexpensive but cover only part of the variant landscape, while sequencing costs $300-500 per sample with 3-5 day turnaround. High-resolution melting (HRM) offers both but suffers from subjective interpretation. We developed HRM-CALR-AI, an automated CALR screening platform.

methodsHRM-CALR-AI was developed on 2667 samples and combines YOLOv8s-cls deep learning with CatBoost meta-classifier for open-set recognition of untrained mutations. Validation included three independent laboratories, 188 consecutive JAK2-negative MPN patients, and a head-to-head comparison with capillary electrophoresis fragment analysis.

resultsHRM-CALR-AI processed 96 samples in 90-min at < $10 per test, with limits of detection of 6.25% (CALR-1) and 12.5% (CALR-2) variant allele frequency. On a 480-sample held-out set, it achieved 93.9% accuracy (95% CI: 91.7-95.8), AUC of 0.996 (95% CI: 0.993-0.998), and 89.1% (57/64) recognition of untrained rare variants. Clinical screening identified 160 wild-type (85.1%), 15 CALR-1 (8.0%), nine CALR-2 (4.8%), and four rare variants (2.1%), including a previously unreported variant (c.1145_1158delinsTCCT) classified as CALR-2-like. Multicenter accuracy was 98.1% (ICC 0.868). Against fragment analysis, HRM-CALR-AI showed equivalent detection of length-altering variants (kappa = 0.933) and additionally covered nonlength-altering variants that are invisible to size-based separation.

conclusionsHRM-CALR-AI combines open-set recognition with low-cost HRM to detect rare and unreported variants at ~50-fold lower cost and same-day turnaround. Multicenter reproducibility and benchmarking against fragment analysis support implementation as a frontline screening tool where NGS access is limited.

Indexed as

Artificial IntelligenceCalreticulinMutationMyeloproliferative DisordersDNA Mutational AnalysisGenetic TestingHumansNucleic Acid DenaturationCalreticulinCALR protein, humanartificial intelligenceCALR mutationhigh‐resolution meltingmolecular diagnosticsmyeloproliferative neoplasms

Identifiers

PMID42151105
PMCPMC13555167

What Socratic holds

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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 Socratic graph.