Article

CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)

2023-08-02

Abstract excerpt

<title>Abstract</title> <p>In the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6), the Genetics of Neurodevelopmental Disorders Lab in Padua proposed a new ID-challenge to give the opportunity of developing computational methods for predicting patient’s phenotype and the causal variants. Eight research teams and 30 models had access to the phenotype details and real genetic da...

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Literature Corpus work: be90ca98-6649-5ca7-888d-83f3a2018dc5
DOI: 10.21203/rs.3.rs-3209168/v1

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