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CAGI6 ID-Challenge:Assessment ofphenotype and variantpredictions in 415children withNeurodevelopmentalDisorders (NDDs) Maria Cristina AspromonteAlessio Del ConteShaowen Zhu2023 год

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

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Аннотация: Abstract 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 data, based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age. In this study we evaluate the ability and accuracy of computational methods to predict comorbid phenotypes based on clinical features described in each patient and causal variants. Finally, we asked to develop a method to find new possible genetic causes for patients without a genetic diagnosis. As already done for the CAGI5, seven clinical features (ID, ASD, ataxia, epilepsy, microcephaly, macrocephaly, hypotonia), and variants (causative, putative pathogenic and contributing factors) were provided. Considering the overall clinical manifestation of our cohort, we give out the variant data and phenotypic traits of the 150 patients from CAGI5 ID-Challenge as training and validation for the prediction methods development.
Год издания: 2023
Авторы: Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Yexian Zhang, Qi Li, Maggie Haitian Wang, Giulia Babbi, Samuele Bovo, Pier Luigi Martelli, Rita Casadio, Azza Althagafi, Sumyyah Toonsi, Maxat Kulmanov, Robert Hoehndorf, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Xian Su, Wesley Surento, Vikas Pejaver, Sean D. Mooney, Uma Sunderam, Rajgopal Sriniva, Alessandra Murgia, Damiano Piovesan, Silvio C. E. Tosatto, Emanuela Leonardi
Издательство: Research Square (United States)
Источник: Research Square (Research Square)
Ключевые слова: Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research
Другие ссылки: Research Square (Research Square) (PDF)
Research Square (Research Square) (HTML)
PubMed Central (HTML)
King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (PDF)
King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (HTML)
PubMed (HTML)