Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
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DOI：
10.1186/s12896-017-0410-1
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发表时间：
2017-12-19
影响因子：
3.5
通讯作者：
Lovell, Brian C.
中科院分区：
文献类型：
--
作者：
Dudding-Byth, Tracy;Baxter, Anne;Lovell, Brian C.
背景：大规模并行基因测序可以快速检测已知的智力残疾(ID)基因。然而，新的综合症ID基因的发现需要至少第二个或一群表型重叠或面部格式塔相似的个体的分子确认。使用计算机面部匹配技术，我们报告了一种自动方法，可以在3681张图像(10个遗传综合征亚组中的1600张图像和2081张对照图像)的数据库中匹配具有相同遗传综合症的不同个体的脸。使用留一法，指定了两个研究问题：1)使用图像数据库中具有10种遗传综合征之一的个人的二维(2D)照片，该技术是否偶然正确地识别出比预期更多的内容：i)最佳匹配？Ii)在前五场比赛中至少有一场比赛？或iii)前10名中至少有一人来自同一综合征亚组？2)基于技术的正确匹配与是否三分之二的临床遗传学家会考虑仅基于图像的诊断之间是否一致？结果：计算机面部匹配技术正确地识别出最佳匹配，在前五名中至少有一名正确匹配，在前十名中至少有一名比预期多出一个(P<；0.00001)。这项技术与临床医生之间的一致性很低，当结果不一致(P<；0.01)时，该技术对除歌舞伎症以外的所有综合征的准确性都较高。结论：尽管计算机人脸匹配技术的准确性是在已知的智力残疾综合症患者的图像上进行测试的，但这项先导性研究的结果表明，人脸匹配技术在深层表型鉴定平台中的潜在应用，有助于解释尽管检测了已知的发育障碍基因但仍未被诊断的个体的DNA测序数据。
Background: Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified:1) Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup?2) Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone?Results: The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance (P < 0.00001). There was low agreement between the technology and clinicians, with higher accuracy of the technology when results were discordant (P < 0.01) for all syndromes except Kabuki syndrome.Conclusions: Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.