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

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. E...

Descripción completa

Detalles Bibliográficos
Autores principales: Aspromonte, Maria Cristina, Conte, Alessio Del, Zhu, Shaowen, Tan, Wuwei, Shen, Yang, Zhang, Yexian, Li, Qi, Wang, Maggie Haitian, Babbi, Giulia, Bovo, Samuele, Martelli, Pier Luigi, Casadio, Rita, Althagafi, Azza, Toonsi, Sumyyah, Kulmanov, Maxat, Hoehndorf, Robert, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Xian, Su, Surento, Wesley, Pejaver, Vikas, Mooney, Sean D., Sunderam, Uma, Srinivasan, Rajgopal, Murgia, Alessandra, Piovesan, Damiano, Tosatto, Silvio C. E., Leonardi, Emanuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418555/
https://www.ncbi.nlm.nih.gov/pubmed/37577579
http://dx.doi.org/10.21203/rs.3.rs-3209168/v1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418555/
https://www.ncbi.nlm.nih.gov/pubmed/37577579
http://dx.doi.org/10.21203/rs.3.rs-3209168/v1

Ejemplares similares