基于立体视网膜眼底照片的定量形状表型分析对近交群体进行群体结构分析

中文摘要 AI 辅助

本文对太平洋诺福克岛781人的近交群体进行表型层面的群体结构分析，其中318人是“邦蒂号”叛变者的后代，分析采用立体视网膜眼底照片的形状数据开展。研究通过多尺度立体匹配算法从立体像对中重建三维视神经乳头（ONH）形状；利用深度神经网络，通过自学习将受遗传控制的ONH形状分解为一组分层特征；根据不同层级特征在识别两个群体时的判别能力进行筛选，采用分层交叉验证评估预测准确率；基于选定的特征集，将个体分组为k个分层聚类，确定k=2、3、4、5、6、7时的聚类成员比例。基于图像分析表型的群体结构分析可用于遗传力和连锁分析，包括来自英国和波利尼西亚祖先的奠基者效应，有望为青光眼及其他ONH相关眼病发现新的遗传风险因素。

英文摘要

The population structure of an inbred population of 781 people on Norfolk Island in the Pacific, 318 of which are descendants of the original Mutineers of the Bounty, is analyzed phenotypically using shape from stereo retinal fundus photographs. Three-dimensional optic nerve head (ONH) shape is reconstructed from stereo pairs by a multi-scale stereo matching algorithm. Using deep neural network, the shape of ONH, which is under genetic control, is decomposed into a set of hierarchical features through self-taught learning. Features captured at different levels are selected according to their discriminant power in identifying the two populations. The prediction accuracy is evaluated with stratified cross validation. Given the selected feature set, individuals are grouped into k hierarchical clusters and cluster membership fractions are determined for k=2,3,4,5,6,7. Population structure analysis on the basis of phenotypes through image analysis allows heritability and linkage analysis, including founder effects from English and Polynesian ancestors, potentially leading to new genetic risk factors for glaucoma and other ONH-related eye diseases.

发表机构

• University of Iowa（爱荷华大学）
• Stephen A Wynn Institute for Vision Research（斯蒂芬·A·温恩视觉研究所）
• Iowa City Veterans Administration Medical Center（爱荷华市退伍军人事务医疗中心）

机构由 AI 辅助整理，请以论文原文为准。