Article

An automatic diagnostic system for pediatric genetic disorders by linking genotype and phenotype information

2021-08-28

Abstract excerpt

<h4>Background</h4> Quantitatively describe the phenotype spectrum of pediatric disorders has remarkable power to assist genetic diagnosis. Here, we developed a matrix which provide this quantitative description of genomic-phenotypic association and constructed an automatic system to assist the diagnose of pediatric genetic disorders. <h4>Results</h4> 20,580 patients with genetic diagnostic conclusions from the Ch...

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Literature Corpus work: 9030083a-8d26-5260-b5fc-26e5b0f5051d
DOI: 10.1101/2021.08.26.21261185

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