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基于集成的深度学习模型用于检测导致皮肤黑色素瘤的突变。

An ensemble-based deep learning model for detection of mutation causing cutaneous melanoma.

机构信息

Department of Computer Science, Bahria University, Islamabad, Pakistan.

Department of Computer Science, Bahria University, Lahore, Pakistan.

出版信息

Sci Rep. 2023 Dec 14;13(1):22251. doi: 10.1038/s41598-023-49075-4.

Abstract

When the mutation affects the melanocytes of the body, a condition called melanoma results which is one of the deadliest skin cancers. Early detection of cutaneous melanoma is vital for raising the chances of survival. Melanoma can be due to inherited defective genes or due to environmental factors such as excessive sun exposure. The accuracy of the state-of-the-art computer-aided diagnosis systems is unsatisfactory. Moreover, the major drawback of medical imaging is the shortage of labeled data. Generalized classifiers are required to diagnose melanoma to avoid overfitting the dataset. To address these issues, blending ensemble-based deep learning (BEDLM-CMS) model is proposed to detect mutation of cutaneous melanoma by integrating long short-term memory (LSTM), Bi-directional LSTM (BLSTM) and gated recurrent unit (GRU) architectures. The dataset used in the proposed study contains 2608 human samples and 6778 mutations in total along with 75 types of genes. The most prominent genes that function as biomarkers for early diagnosis and prognosis are utilized. Multiple extraction techniques are used in this study to extract the most-prominent features. Afterwards, we applied different DL models optimized through grid search technique to diagnose melanoma. The validity of the results is confirmed using several techniques, including tenfold cross validation (10-FCVT), independent set (IST), and self-consistency (SCT). For validation of the results multiple metrics are used which include accuracy, specificity, sensitivity, and Matthews's correlation coefficient. BEDLM gives the highest accuracy of 97% in the independent set test whereas in self-consistency test and tenfold cross validation test it gives 94% and 93% accuracy, respectively. Accuracy of in self-consistency test, independent set test, and tenfold cross validation test is LSTM (96%, 94%, 92%), GRU (93%, 94%, 91%), and BLSTM (99%, 98%, 93%), respectively. The findings demonstrate that the proposed BEDLM-CMS can be used effectively applied for early diagnosis and treatment efficacy evaluation of cutaneous melanoma.

摘要

当突变影响身体的黑素细胞时,会导致一种称为黑色素瘤的疾病,这是最致命的皮肤癌之一。早期发现皮肤黑色素瘤对于提高生存机会至关重要。黑色素瘤可能是由于遗传缺陷基因引起的,也可能是由于环境因素引起的,如过度暴露在阳光下。最先进的计算机辅助诊断系统的准确性并不令人满意。此外,医学成像的主要缺点是标记数据的缺乏。为了避免过度拟合数据集,需要使用广义分类器来诊断黑色素瘤。为了解决这些问题,提出了一种基于集成的深度学习(BEDLM-CMS)模型,通过集成长短期记忆(LSTM)、双向长短期记忆(BLSTM)和门控循环单元(GRU)结构来检测皮肤黑色素瘤的突变。本研究中使用的数据集包含 2608 个人类样本和总共 6778 个突变,以及 75 种基因。利用了作为早期诊断和预后生物标志物的最显著基因。本研究使用了多种提取技术来提取最显著的特征。之后,我们应用了不同的经过网格搜索技术优化的深度学习模型来诊断黑色素瘤。通过十倍交叉验证(10-FCVT)、独立集(IST)和自一致性(SCT)等多种技术验证了结果的有效性。为了验证结果,使用了多种指标,包括准确率、特异性、敏感性和马修斯相关系数。在独立集测试中,BEDLM 给出了 97%的最高准确率,而在自一致性测试和十倍交叉验证测试中,准确率分别为 94%和 93%。在自一致性测试、独立集测试和十倍交叉验证测试中的准确率分别为 LSTM(96%、94%、92%)、GRU(93%、94%、91%)和 BLSTM(99%、98%、93%)。研究结果表明,所提出的 BEDLM-CMS 可有效应用于皮肤黑色素瘤的早期诊断和治疗效果评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb6c/10721601/308dc27614a2/41598_2023_49075_Fig1_HTML.jpg

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