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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20251
Azza Althagafi results 1 · Newest (Page 1/1, per page 25)
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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)NARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 2-3 · Springer
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 Williams; Olivier Lichtarge; Su Xian; Wesley Surento; Vikas Pejaver; Sean D. Mooney; Uma Sunderam; Rajgopal Srinivasan; Alessandra Murgia; Damiano Piovesan; Silvio C. E. Tosatto; Emanuela Leonardi
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatri...
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