Article

Next‐generation phenotyping in Nigerian children with Cornelia de Lange Syndrome

2024-02-19

Abstract excerpt

Next-generation phenotyping (NGP) can be used to compute the similarity of dysmorphic patients to known syndromic diseases. So far, the technology has been evaluated in variant prioritization and classification, providing evidence for pathogenicity if the phenotype matched with other patients with a confirmed molecular diagnosis. In a Nigerian cohort of individuals with facial dysmorphism, we used the NGP tool Ges...

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Literature Corpus work: 0f909697-f5f6-5bee-9fbd-f81d48d55b2b
DOI: 10.1101/2024.02.15.24302695

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