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Article

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Journal of inherited metabolic disease - 1 May 2018

Pantel Jean T, Zhao Max, Mensah Martin A, Hajjir Nurulhuda, Hsieh Tzung-Chien, Hanani Yair, Fleischer Nicole, Kamphans Tom, Mundlos Stefan, Gurovich Yaron, Krawitz Peter M

Abstract excerpt

Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29623569
DOI: 10.1007/s10545-018-0174-3
PMCID: PMC5959962

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